Materiały źródłowe

• #1 Chronic Granulomatous Disease: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1116022-overview

  Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any of the five subunits of the NADPH oxidase complex responsible for the respiratory burst in phagocytic leukocytes. Patients with CGD are at increased risk of life-threatening infections with catalase-positive bacteria and fungi and inflammatory complications such as CGD colitis. […] In approximately two thirds of patients, the first symptoms of CGD appear during the first year of life in the form of infections, dermatitis (sometimes seen at birth), gastrointestinal complications (obstruction or intermittent bloody diarrhea due to colitis), and a failure to thrive. […] The long-term survival of patients who develop symptoms after the end of the first year of life is significantly better than that of patients whose illness starts in infancy. Survival rates are variable but improving; approximately 50% of patients survive to age 30-40 years.

• #2 Chronic Granulomatous Disease | CheckRare

  https://checkrare.com/chronic-granulomatous-disease/

  Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency that affects certain white blood cells. This condition leaves the body vulnerable to chronic inflammation and frequent bacterial and fungal infections. The features of this condition usually develop in infancy or early childhood; however, milder forms may be diagnosed in the teen years or even in adulthood. […] In people with chronic granulomatous disease, the immune system does not work properly, which leaves the body vulnerable to certain types of bacteria and fungi. The signs and symptoms vary but may include: Frequent bacterial and fungal infections, Granulomas (areas of inflamed tissue), most commonly in the gastrointestinal tract and/or the genitourinary system, Abscesses that involve the lungs, liver, spleen, bones, or skin, Swollen lymph nodes, Persistent diarrhea, Chronic runny nose.

• #3 Chronic granulomatous disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/

  Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. […] People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. […] Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves.

• #4 Chronic granulomatous disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/

  Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. […] People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. […] Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves.

• #5 Chronic granulomatous disease

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20256720

  People with chronic granulomatous disease experience serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms associated with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus.

• #6 Chronic granulomatous disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/chronic-granulomatous-disease/symptoms-causes/syc-20355817

  People with chronic granulomatous disease get a serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms that may happen with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Trouble swallowing. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus, called an abscess. […] If you or your child often has infections and the symptoms listed above, talk to a healthcare professional.

• #7 Pediatric Chronic Granulomatous Disease: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/956936-overview

  Chronic granulomatous disease (CGD), an inherited disorder of phagocytic cells, results from an inability of phagocytes to produce bactericidal superoxide anions (O2-). […] These deficits lead to recurrent, life-threatening bacterial and fungal infections. […] The hallmark of CGD is early onset of severe, recurrent bacterial and fungal infections. Common presentations of the condition include the following: Skin infections, Pneumonia, Lung abscesses, Suppurative lymphadenitis, Diarrhea secondary to enteritis, Perianal or perirectal abscesses, Hepatic or splenic abscesses. […] A characteristic manifestation of CGD is the development of granulomas in the skin, gastrointestinal (GI) tract, and genitourinary (GU) tract. […] The prognosis for patients with CGD has improved over the past decades. […] The highest mortality rate is in early childhood. The usual cause of death is infection. However, CGD has significant clinical heterogeneity in the severity of disease in affected patients.

• #8 Chronic granulomatous disease Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/chronic-granulomatous-disease

  Chronic granulomatous disease (CGD) is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #9 Chronic Granulomatous Disease | UPMC Children’s – Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/chronic-granulomatous-disease

  Depending on how severe CGD is, children may have symptoms before age one or not until later in childhood. […] Symptoms of CGD are much the same as symptoms of other childhood illnesses. But the symptoms of CGD may be more severe and last longer. […] CGD symptoms are: […] Respiratory infections that keep coming back, including sinus and lung infections and recurrent pneumonia. […] Skin infections and swelling that don’t respond well to treatment. […] Swollen lymph nodes or infections. […] Liver problems. […] Bone infections. […] Belly pain and diarrhea. […] Children with primary immune deficiencies like CGD are: […] More prone than others to getting infections. […] Slower to clear infections from their bodies. […] At risk for recurrent pneumonia that can cause permanent damage to the lungs, causing severe health problems into adulthood. […] Granulomas may also form on bones, in the brain, and in the intestinal and urinary tract, causing blockages. […] Your doctor will make or confirm a CGD diagnosis and find out how much the disease has progressed.

• #10 Chronic Granulomatous Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/chronic-granulomatous-disease

  Chronic granulomatous disease (CGD) is a condition that prevents the immune system from fighting off certain infections. The inherited genetic disorder can be life-threatening and life-limiting without accurate diagnosis, customized treatment and long-term observation. […] Children with CGD can easily fight off some infections like viruses, but not others that need the body’s natural ability to control certain types of bacteria and fungi. While symptoms of this condition usually develop in infancy or early childhood; in milder forms, it may not be diagnosed until adolescence or adulthood. […] Signs and symptoms of the disorder vary, but may include: Frequent bacterial and fungal infections that affect the lungs, lymph nodes, liver, bones, skin or, in rare cases, the brain. These infections may be treated initially with antibiotics but keep coming back. Swollen lymph nodes, including hard lumps in the groin area or back of the ears. Tight, ball-shaped areas of inflamed tissue (called granulomas), are commonly found in the gastrointestinal tract or genitourinary system. Granulomas can cause obstructions in body tissues or organs. Abscesses in the liver, spleen, lungs, bones or on the skin. Sores with rashes or pus anywhere on the body, including the scalp and inside of nose. Recurring or persistent diarrhea. Pain when urinating. Sores around the bottom. Warm, tender or swollen areas. Chronic runny nose and/or fever. Two or more cases of pneumonia in one year. In addition, wounds on any part of the body may have trouble healing in children with CGD.

• #11 Pediatric Chronic Granulomatous Disease: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/956936-overview

  Chronic granulomatous disease (CGD), an inherited disorder of phagocytic cells, results from an inability of phagocytes to produce bactericidal superoxide anions (O2-). […] These deficits lead to recurrent, life-threatening bacterial and fungal infections. […] The hallmark of CGD is early onset of severe, recurrent bacterial and fungal infections. Common presentations of the condition include the following: Skin infections, Pneumonia, Lung abscesses, Suppurative lymphadenitis, Diarrhea secondary to enteritis, Perianal or perirectal abscesses, Hepatic or splenic abscesses. […] A characteristic manifestation of CGD is the development of granulomas in the skin, gastrointestinal (GI) tract, and genitourinary (GU) tract. […] The prognosis for patients with CGD has improved over the past decades. […] The highest mortality rate is in early childhood. The usual cause of death is infection. However, CGD has significant clinical heterogeneity in the severity of disease in affected patients.

• #12 Chronic Granulomatous Disease (CGD)

  https://www.accredo.com/conditions/chronic-granulomatous-disease

  Most children with CGD are diagnosed by the age of 5. […] People with CGD experience serious bacterial or fungal infection every few years. Lung infections, including pneumonia, are common. Exposure to dead leaves, mulch or hay poses a risk of a serious type of fungal pneumonia. Other common symptoms include: Spleen and liver abscesses, Osteomyelitis: a bone infection, Septic arthritis: the invasion of a joint by a bacterial infection, which causes arthritis, Superficial skin infections, such as cellulitis and impetigo, Fungal infections, Swelling and redness in the mouth, Gastrointestinal problems.

• #13 Chronic granulomatous disease (CGD) and other phagocytic cell disorders | Immune Deficiency Foundation

  https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/chronic-granulomatous-disease-cgd-and-other

  Liver abscesses occur in about one-third of individuals with CGD. A liver abscess can start out as fever and fatigue, but it may also cause pain over the right upper abdomen. […] Inflammation is also a significant problem in people with CGD, both with and without infection. Granulomas can cause trouble with intestinal or urinary function and can also form in the lung, the eye, or the skin. […] About 40-50% of individuals with CGD develop inflammation in the intestine that is not clearly due to a specific infection. Individuals with CGD can have severe abdominal pain, diarrhea, weight loss, and sometimes abnormal narrowing in parts of the intestines. […] The quality of life and longevity of patients with chronic granulomatous disease (CGD) has improved dramatically over the last 50 years with knowledge of the phagocytic cell abnormality and appreciation of the need for early, aggressive antibiotic therapy when infections occur. […] However, patients with CGD remain at significant risk for infection throughout life. They must take their prophylactic drugs, remain cautious, and be vigilant to seek early diagnosis and treatment for possible infections.

• #14 Chronic Granulomatous Disease (CGD) – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd

  Chronic granulomatous disease is characterized by white blood cells that cannot produce activated oxygen compounds and by defects in phagocytic cell microbicidal function. Manifestations include recurrent infections; multiple granulomatous lesions of the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts; abscesses; lymphadenitis; hypergammaglobulinemia; elevated erythrocyte sedimentation rate; and anemia. […] Chronic granulomatous disease usually begins with recurrent abscesses during early childhood; in a few patients, onset is delayed until the early teens. […] Multiple granulomatous lesions occur in the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts (causing obstruction). Suppurative lymphadenitis, hepatosplenomegaly, pneumonia, and hematologic evidence of chronic infection are common. Skin, lymph node, lung, liver, and perianal abscesses; stomatitis; and osteomyelitis also occur. […] Growth may be delayed. […] X-linked carriers of gp91phox chronic granulomatous disease may be asymptomatic or develop various, usually less severe, symptoms, including joint pain with a lupus-like syndrome, aphthous ulcers, chorioretinal lesions, and photosensitivity.

• #15 Chronic Granulomatous Disease: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21157-chronic-granulomatous-disease-cgd

  Chronic granulomatous disease, or CGD, is a genetic condition where white blood cells are unable to protect your body from potentially harmful bacteria and fungi. This leaves you susceptible to serious infections. […] Signs and symptoms of CGD usually appear in childhood but can appear at any age. The most common symptom is recurrent bacterial and fungal infections, which can be serious. […] Its also common for people with CGD to develop pneumonia and infections in other parts of their bodies like their skin, livers, bones or lymph nodes. […] People with CGD often develop infections in their skin, lungs, lymph nodes and liver. CGD can increase your risk of developing abscesses (pus-filled pockets) in your organs. […] Other signs or symptoms could include: Itchy, irritated skin. Runny nose. Chest pain when breathing. Swelling in the lymph nodes. Abscesses in your liver, lungs, skin or spleen. Granulomas (masses of cells that develop at sites of inflammation or infection). Chronic abdominal pain with diarrhea, nausea and vomiting. Liver function test abnormalities.

• #16 Chronic Granulomatous Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/chronic-granulomatous-disease

  Chronic granulomatous disease (CGD) is a condition that prevents the immune system from fighting off certain infections. The inherited genetic disorder can be life-threatening and life-limiting without accurate diagnosis, customized treatment and long-term observation. […] Children with CGD can easily fight off some infections like viruses, but not others that need the body’s natural ability to control certain types of bacteria and fungi. While symptoms of this condition usually develop in infancy or early childhood; in milder forms, it may not be diagnosed until adolescence or adulthood. […] Signs and symptoms of the disorder vary, but may include: Frequent bacterial and fungal infections that affect the lungs, lymph nodes, liver, bones, skin or, in rare cases, the brain. These infections may be treated initially with antibiotics but keep coming back. Swollen lymph nodes, including hard lumps in the groin area or back of the ears. Tight, ball-shaped areas of inflamed tissue (called granulomas), are commonly found in the gastrointestinal tract or genitourinary system. Granulomas can cause obstructions in body tissues or organs. Abscesses in the liver, spleen, lungs, bones or on the skin. Sores with rashes or pus anywhere on the body, including the scalp and inside of nose. Recurring or persistent diarrhea. Pain when urinating. Sores around the bottom. Warm, tender or swollen areas. Chronic runny nose and/or fever. Two or more cases of pneumonia in one year. In addition, wounds on any part of the body may have trouble healing in children with CGD.

• #17 Chronic granulomatous disease – Wikipedia

  https://en.wikipedia.org/wiki/Chronic_granulomatous_disease

  Classically, patients with chronic granulomatous disease will have recurrent bouts of infection due to the decreased capacity of their immune system to fight off disease-causing organisms. The recurrent infections they acquire are specific and are, in decreasing order of frequency: pneumonia, abscesses of the skin, tissues, and organs, septic arthritis, osteomyelitis, bacteremia/fungemia, superficial skin infections such as cellulitis or impetigo. […] Most people with CGD are diagnosed in childhood, usually, before age 5. Early diagnosis is important since these people can be placed on antibiotics to ward off infections before they occur. […] Patients with CGD can usually resist infections of catalase-negative bacteria but are susceptible to catalase-positive bacteria. […] Without treatment, children often die in the first decade of life. The increased severity of X-linked CGD results in a decreased survival rate of patients, as 20% of X-linked patients die of CGD-related causes by the age of 10, whereas 20% of autosomal recessive patients die by the age of 35. […] The average patient now survives at least 40 years.

• #18 Chronic granulomatous disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/chronic-granulomatous-disease/symptoms-causes/syc-20355817

  People with chronic granulomatous disease get a serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms that may happen with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Trouble swallowing. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus, called an abscess. […] If you or your child often has infections and the symptoms listed above, talk to a healthcare professional.

• #19 Chronic Granulomatous Disease (CGD) | NIAID: National Institute of Allergy and Infectious Diseases

  https://www.niaid.nih.gov/diseases-conditions/chronic-granulomatous-disease-cgd

  People with CGD are highly susceptible to infections caused by certain bacteria and fungi, such as Staphylococcus aureus, Serratia marcescens, Burkholderia cepacia, Nocardia species, and Aspergillus species. […] These people may develop abscesses (boils) in their lungs, liver, spleen, bones, or skin; and masses of cells, called granulomas, that can obstruct the bowel or urinary tract. […] In some people, granulomas can cause an inflammatory bowel disease similar to Crohns Disease. […] In addition, heart or kidney problems, diabetes, and autoimmune disease may occur in people with CGD, but this varies depending on which gene is mutated.

• #20 Chronic granulomatous disease – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/703

  Chronic granulomatous disease (CGD) is caused by genetic deficiency of components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, which is necessary for effective phagocyte killing. […] Results in recurrent serious bacterial and fungal infections, most commonly with Staphylococcus aureus, Aspergillus species, Nocardia species, Serratia marcescens, and Burkholderia cepacia. […] Infections include pneumonia, superficial and deep abscesses, lymphadenitis, and osteomyelitis. […] Antibody and antifungal prophylaxis and early treatment of infections are imperative. […] As a result, affected patients suffer recurrent serious bacterial and fungal infections, most commonly with Staphylococcus aureus, Aspergillus species, Nocardia species, Serratia marcescens, and Burkholderia cepacia, as well as abnormal inflammatory responses that result in granuloma formation.

• #21 Chronic Granulomatous Disease: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1116022-overview

  Fungal infections remain a major determinant of survival in chronic granulomatous disease (CGD). Morbidity secondary to infection or granulomatous complications remains significant for many patients, particularly those with the X-linked form. […] Patients with CGD and modest residual production of reactive oxygen intermediates (ROIs) have significantly less severe illness and a greater likelihood of long-term survival than patients with little residual ROI production.

• #22 Chronic granulomatous disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/

  Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. […] People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. […] Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves.

• #23 Chronic granulomatous disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/chronic-granulomatous-disease/symptoms-causes/syc-20355817

  People with chronic granulomatous disease get a serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms that may happen with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Trouble swallowing. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus, called an abscess. […] If you or your child often has infections and the symptoms listed above, talk to a healthcare professional.

• #24 Chronic granulomatous disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/

  Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. […] People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. […] Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves.

• #25 Chronic granulomatous disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/chronic-granulomatous-disease/symptoms-causes/syc-20355817

  People with chronic granulomatous disease get a serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms that may happen with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Trouble swallowing. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus, called an abscess. […] If you or your child often has infections and the symptoms listed above, talk to a healthcare professional.

• #26 Chronic granulomatous disease

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20256720

  People with chronic granulomatous disease experience serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms associated with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus.

• #27 Chronic granulomatous disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/

  Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. […] People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. […] Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves.

• #28 Chronic granulomatous disease Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/chronic-granulomatous-disease

  Chronic granulomatous disease (CGD) is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #29 Chronic Granulomatous Disease | Symptoms & Life Expectancy

  https://www.buoyhealth.com/learn/chronic-granulomatous-disease

  The most common symptoms are recurrent respiratory and skin infections that are often severe, although infection anywhere in the body is possible. […] The main symptoms experienced in chronic granulomatous disease include the following: Growth retardation, Failure to thrive, Fever, Chills, Malaise, Pain, Frequent recurrent bacterial or fungal infection. […] Respiratory symptoms commonly experienced with chronic granulomatous disease include the following: Cough, Difficulty breathing, Chest pain. […] The following abdominal symptoms may occur with chronic granulomatous disease: Enlarged liver, Enlarged spleen, Abdominal pain, Diarrhea, Abdominal distension. […] The following skin symptoms may be experienced with chronic granulomatous disease: Enlarged, swollen, or painful lymph nodes, Cellulitis (bacterial infection of the skin), Abscess, Severe acne, Painful inflammation of the nostrils. […] The survival of the disease has dramatically improved and the average survival for patients with CGD is 40 years. This is largely due to earlier diagnosis and the use of prophylactic antibiotics to prevent infection. The leading cause of death in people with CGD is respiratory fungal infections.

• #30 Symptoms and Sequelae of Chronic Granulomatous Disease – For HCPs

  https://www.cgdpathways.com/cgd-overview/symptoms-and-sequelae-of-chronic-granulomatous-disease

  Osteomyelitis, hepatic abscess, and lymphadenitis may be signs of chronic granulomatous disease.1 […] Infections and granulomatous lesions are usually the first manifestations of CGD, with the skin being among the most frequently impacted sites.1 […] Gastrointestinal symptoms indicative of CGD may include pyloric edema, abdominal pain, diarrhea, and perirectal granulomas.1 […] 8-year-old patient with CGD presenting with pulmonary infection, fever, and respiratory distress.3 […] 2-month-old CGD patient presenting with intra-abdominal infection, fever, and protuberant abdomen.3

• #31 Chronic granulomatous disease Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/chronic-granulomatous-disease

  Chronic granulomatous disease (CGD) is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #32 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001239.htm

  Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. CGD is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #33 Chronic Granulomatous Disease | Symptoms & Life Expectancy

  https://www.buoyhealth.com/learn/chronic-granulomatous-disease

  The most common symptoms are recurrent respiratory and skin infections that are often severe, although infection anywhere in the body is possible. […] The main symptoms experienced in chronic granulomatous disease include the following: Growth retardation, Failure to thrive, Fever, Chills, Malaise, Pain, Frequent recurrent bacterial or fungal infection. […] Respiratory symptoms commonly experienced with chronic granulomatous disease include the following: Cough, Difficulty breathing, Chest pain. […] The following abdominal symptoms may occur with chronic granulomatous disease: Enlarged liver, Enlarged spleen, Abdominal pain, Diarrhea, Abdominal distension. […] The following skin symptoms may be experienced with chronic granulomatous disease: Enlarged, swollen, or painful lymph nodes, Cellulitis (bacterial infection of the skin), Abscess, Severe acne, Painful inflammation of the nostrils. […] The survival of the disease has dramatically improved and the average survival for patients with CGD is 40 years. This is largely due to earlier diagnosis and the use of prophylactic antibiotics to prevent infection. The leading cause of death in people with CGD is respiratory fungal infections.

• #34 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001239.htm

  Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. CGD is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #35 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001239.htm

  Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. CGD is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #36 Chronic granulomatous disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/chronic-granulomatous-disease/symptoms-causes/syc-20355817

  People with chronic granulomatous disease get a serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms that may happen with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Trouble swallowing. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus, called an abscess. […] If you or your child often has infections and the symptoms listed above, talk to a healthcare professional.

• #37 Chronic Granulomatous Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/chronic-granulomatous-disease

  Chronic granulomatous disease (CGD) is a condition that prevents the immune system from fighting off certain infections. The inherited genetic disorder can be life-threatening and life-limiting without accurate diagnosis, customized treatment and long-term observation. […] Children with CGD can easily fight off some infections like viruses, but not others that need the body’s natural ability to control certain types of bacteria and fungi. While symptoms of this condition usually develop in infancy or early childhood; in milder forms, it may not be diagnosed until adolescence or adulthood. […] Signs and symptoms of the disorder vary, but may include: Frequent bacterial and fungal infections that affect the lungs, lymph nodes, liver, bones, skin or, in rare cases, the brain. These infections may be treated initially with antibiotics but keep coming back. Swollen lymph nodes, including hard lumps in the groin area or back of the ears. Tight, ball-shaped areas of inflamed tissue (called granulomas), are commonly found in the gastrointestinal tract or genitourinary system. Granulomas can cause obstructions in body tissues or organs. Abscesses in the liver, spleen, lungs, bones or on the skin. Sores with rashes or pus anywhere on the body, including the scalp and inside of nose. Recurring or persistent diarrhea. Pain when urinating. Sores around the bottom. Warm, tender or swollen areas. Chronic runny nose and/or fever. Two or more cases of pneumonia in one year. In addition, wounds on any part of the body may have trouble healing in children with CGD.

• #38 Chronic Granulomatous Disease | Symptoms & Life Expectancy

  https://www.buoyhealth.com/learn/chronic-granulomatous-disease

  The most common symptoms are recurrent respiratory and skin infections that are often severe, although infection anywhere in the body is possible. […] The main symptoms experienced in chronic granulomatous disease include the following: Growth retardation, Failure to thrive, Fever, Chills, Malaise, Pain, Frequent recurrent bacterial or fungal infection. […] Respiratory symptoms commonly experienced with chronic granulomatous disease include the following: Cough, Difficulty breathing, Chest pain. […] The following abdominal symptoms may occur with chronic granulomatous disease: Enlarged liver, Enlarged spleen, Abdominal pain, Diarrhea, Abdominal distension. […] The following skin symptoms may be experienced with chronic granulomatous disease: Enlarged, swollen, or painful lymph nodes, Cellulitis (bacterial infection of the skin), Abscess, Severe acne, Painful inflammation of the nostrils. […] The survival of the disease has dramatically improved and the average survival for patients with CGD is 40 years. This is largely due to earlier diagnosis and the use of prophylactic antibiotics to prevent infection. The leading cause of death in people with CGD is respiratory fungal infections.

• #39 Chronic Granulomatous Disease Symptoms | ACTIMMUNE® (Interferon gamma-1b) HCP

  https://www.actimmunehcp.com/chronic-granulomatous-disease/about-cgd/symptoms-presentation

  CGD affects multiple organs. […] Patients also exhibit growth retardation and failure to thrive in childhood and have abnormal wound healing. […] GI inflammation is a common manifestation of CGD. Approximately 66% of patients with CGD experience chronic and/or acute GI inflammation throughout their lifetime. […] Patients may present with diarrhea, abdominal pain, constipation, weight loss, failure to thrive, presence of granulomas, and perianal and liver abscesses.

• #40 Chronic Granulomatous Disease (CGD) | NIAID: National Institute of Allergy and Infectious Diseases

  https://www.niaid.nih.gov/diseases-conditions/chronic-granulomatous-disease-cgd

  People with CGD are highly susceptible to infections caused by certain bacteria and fungi, such as Staphylococcus aureus, Serratia marcescens, Burkholderia cepacia, Nocardia species, and Aspergillus species. […] These people may develop abscesses (boils) in their lungs, liver, spleen, bones, or skin; and masses of cells, called granulomas, that can obstruct the bowel or urinary tract. […] In some people, granulomas can cause an inflammatory bowel disease similar to Crohns Disease. […] In addition, heart or kidney problems, diabetes, and autoimmune disease may occur in people with CGD, but this varies depending on which gene is mutated.

• #41 Chronic granulomatous disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/

  Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. […] In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. […] Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.

• #42 Chronic granulomatous disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/chronic-granulomatous-disease/symptoms-causes/syc-20355817

  People with chronic granulomatous disease get a serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms that may happen with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Trouble swallowing. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus, called an abscess. […] If you or your child often has infections and the symptoms listed above, talk to a healthcare professional.

• #43 Chronic granulomatous disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/

  Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. […] In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. […] Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.

• #44 Chronic Granulomatous Disease Symptoms | ACTIMMUNE® (Interferon gamma-1b) HCP

  https://www.actimmunehcp.com/chronic-granulomatous-disease/about-cgd/symptoms-presentation

  CGD affects multiple organs. […] Patients also exhibit growth retardation and failure to thrive in childhood and have abnormal wound healing. […] GI inflammation is a common manifestation of CGD. Approximately 66% of patients with CGD experience chronic and/or acute GI inflammation throughout their lifetime. […] Patients may present with diarrhea, abdominal pain, constipation, weight loss, failure to thrive, presence of granulomas, and perianal and liver abscesses.

• #45 Chronic granulomatous disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/

  Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. […] In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. […] Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.

• #46 Chronic granulomatous disease

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20256720

  People with chronic granulomatous disease experience serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms associated with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus.

• #47 Chronic granulomatous disease

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20256720

  People with chronic granulomatous disease experience serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms associated with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus.

• #48 Pediatric Chronic Granulomatous Disease: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/956936-overview

  Chronic granulomatous disease (CGD), an inherited disorder of phagocytic cells, results from an inability of phagocytes to produce bactericidal superoxide anions (O2-). […] These deficits lead to recurrent, life-threatening bacterial and fungal infections. […] The hallmark of CGD is early onset of severe, recurrent bacterial and fungal infections. Common presentations of the condition include the following: Skin infections, Pneumonia, Lung abscesses, Suppurative lymphadenitis, Diarrhea secondary to enteritis, Perianal or perirectal abscesses, Hepatic or splenic abscesses. […] A characteristic manifestation of CGD is the development of granulomas in the skin, gastrointestinal (GI) tract, and genitourinary (GU) tract. […] The prognosis for patients with CGD has improved over the past decades. […] The highest mortality rate is in early childhood. The usual cause of death is infection. However, CGD has significant clinical heterogeneity in the severity of disease in affected patients.

• #49 Chronic granulomatous disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/chronic-granulomatous-disease/symptoms-causes/syc-20355817

  People with chronic granulomatous disease get a serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms that may happen with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Trouble swallowing. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus, called an abscess. […] If you or your child often has infections and the symptoms listed above, talk to a healthcare professional.

• #50 Chronic granulomatous disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/chronic-granulomatous-disease/symptoms-causes/syc-20355817

  People with chronic granulomatous disease get a serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms that may happen with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Trouble swallowing. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus, called an abscess. […] If you or your child often has infections and the symptoms listed above, talk to a healthcare professional.

• #51 Chronic Granulomatous Disease (CGD) – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd

  Chronic granulomatous disease is characterized by white blood cells that cannot produce activated oxygen compounds and by defects in phagocytic cell microbicidal function. Manifestations include recurrent infections; multiple granulomatous lesions of the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts; abscesses; lymphadenitis; hypergammaglobulinemia; elevated erythrocyte sedimentation rate; and anemia. […] Chronic granulomatous disease usually begins with recurrent abscesses during early childhood; in a few patients, onset is delayed until the early teens. […] Multiple granulomatous lesions occur in the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts (causing obstruction). Suppurative lymphadenitis, hepatosplenomegaly, pneumonia, and hematologic evidence of chronic infection are common. Skin, lymph node, lung, liver, and perianal abscesses; stomatitis; and osteomyelitis also occur. […] Growth may be delayed. […] X-linked carriers of gp91phox chronic granulomatous disease may be asymptomatic or develop various, usually less severe, symptoms, including joint pain with a lupus-like syndrome, aphthous ulcers, chorioretinal lesions, and photosensitivity.

• #52 Chronic granulomatous disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/

  Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. […] In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. […] Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.

• #53 Chronic granulomatous disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/

  Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. […] In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. […] Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.

• #54 Chronic Granulomatous Disease (CGD) – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd

  Chronic granulomatous disease is characterized by white blood cells that cannot produce activated oxygen compounds and by defects in phagocytic cell microbicidal function. Manifestations include recurrent infections; multiple granulomatous lesions of the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts; abscesses; lymphadenitis; hypergammaglobulinemia; elevated erythrocyte sedimentation rate; and anemia. […] Chronic granulomatous disease usually begins with recurrent abscesses during early childhood; in a few patients, onset is delayed until the early teens. […] Multiple granulomatous lesions occur in the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts (causing obstruction). Suppurative lymphadenitis, hepatosplenomegaly, pneumonia, and hematologic evidence of chronic infection are common. Skin, lymph node, lung, liver, and perianal abscesses; stomatitis; and osteomyelitis also occur. […] Growth may be delayed. […] X-linked carriers of gp91phox chronic granulomatous disease may be asymptomatic or develop various, usually less severe, symptoms, including joint pain with a lupus-like syndrome, aphthous ulcers, chorioretinal lesions, and photosensitivity.

• #55 Chronic Granulomatous Disease (CGD) – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd

  Chronic granulomatous disease is characterized by white blood cells that cannot produce activated oxygen compounds and by defects in phagocytic cell microbicidal function. Manifestations include recurrent infections; multiple granulomatous lesions of the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts; abscesses; lymphadenitis; hypergammaglobulinemia; elevated erythrocyte sedimentation rate; and anemia. […] Chronic granulomatous disease usually begins with recurrent abscesses during early childhood; in a few patients, onset is delayed until the early teens. […] Multiple granulomatous lesions occur in the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts (causing obstruction). Suppurative lymphadenitis, hepatosplenomegaly, pneumonia, and hematologic evidence of chronic infection are common. Skin, lymph node, lung, liver, and perianal abscesses; stomatitis; and osteomyelitis also occur. […] Growth may be delayed. […] X-linked carriers of gp91phox chronic granulomatous disease may be asymptomatic or develop various, usually less severe, symptoms, including joint pain with a lupus-like syndrome, aphthous ulcers, chorioretinal lesions, and photosensitivity.

• #56 Chronic Granulomatous Disease (CGD) – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd

  Chronic granulomatous disease is characterized by white blood cells that cannot produce activated oxygen compounds and by defects in phagocytic cell microbicidal function. Manifestations include recurrent infections; multiple granulomatous lesions of the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts; abscesses; lymphadenitis; hypergammaglobulinemia; elevated erythrocyte sedimentation rate; and anemia. […] Chronic granulomatous disease usually begins with recurrent abscesses during early childhood; in a few patients, onset is delayed until the early teens. […] Multiple granulomatous lesions occur in the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts (causing obstruction). Suppurative lymphadenitis, hepatosplenomegaly, pneumonia, and hematologic evidence of chronic infection are common. Skin, lymph node, lung, liver, and perianal abscesses; stomatitis; and osteomyelitis also occur. […] Growth may be delayed. […] X-linked carriers of gp91phox chronic granulomatous disease may be asymptomatic or develop various, usually less severe, symptoms, including joint pain with a lupus-like syndrome, aphthous ulcers, chorioretinal lesions, and photosensitivity.

• #57 Chronic Granulomatous Disease (CGD) | NIAID: National Institute of Allergy and Infectious Diseases

  https://www.niaid.nih.gov/diseases-conditions/chronic-granulomatous-disease-cgd

  People with CGD are highly susceptible to infections caused by certain bacteria and fungi, such as Staphylococcus aureus, Serratia marcescens, Burkholderia cepacia, Nocardia species, and Aspergillus species. […] These people may develop abscesses (boils) in their lungs, liver, spleen, bones, or skin; and masses of cells, called granulomas, that can obstruct the bowel or urinary tract. […] In some people, granulomas can cause an inflammatory bowel disease similar to Crohns Disease. […] In addition, heart or kidney problems, diabetes, and autoimmune disease may occur in people with CGD, but this varies depending on which gene is mutated.

• #58 Chronic Granulomatous Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK493171/

  In some cases, patients with CGD do not develop overt pyogenic infections; instead, chronic inflammation develops. Consequentially, granulomas form, a hallmark of this disorder, causing symptoms of obstruction of the biliary tract, bladder, gastrointestinal, uteropelvic, or bronchus. […] The prognosis of CGD is improving with advancements in treatment. Patients can prevent infection with good skin hygiene, antifungals, and antibiotics. […] On average, CGD patients survive at least 40 years, especially with long-term prophylactic antimicrobials. Often, a severe fungal or bacterial infection can be fatal.

• #59 Chronic Granulomatous Disease (CGD) – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd

  Chronic granulomatous disease is characterized by white blood cells that cannot produce activated oxygen compounds and by defects in phagocytic cell microbicidal function. Manifestations include recurrent infections; multiple granulomatous lesions of the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts; abscesses; lymphadenitis; hypergammaglobulinemia; elevated erythrocyte sedimentation rate; and anemia. […] Chronic granulomatous disease usually begins with recurrent abscesses during early childhood; in a few patients, onset is delayed until the early teens. […] Multiple granulomatous lesions occur in the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts (causing obstruction). Suppurative lymphadenitis, hepatosplenomegaly, pneumonia, and hematologic evidence of chronic infection are common. Skin, lymph node, lung, liver, and perianal abscesses; stomatitis; and osteomyelitis also occur. […] Growth may be delayed. […] X-linked carriers of gp91phox chronic granulomatous disease may be asymptomatic or develop various, usually less severe, symptoms, including joint pain with a lupus-like syndrome, aphthous ulcers, chorioretinal lesions, and photosensitivity.

• #60 Chronic Granulomatous Disease Symptoms | ACTIMMUNE® (Interferon gamma-1b) HCP

  https://www.actimmunehcp.com/chronic-granulomatous-disease/about-cgd/symptoms-presentation

  CGD affects multiple organs. […] Patients also exhibit growth retardation and failure to thrive in childhood and have abnormal wound healing. […] GI inflammation is a common manifestation of CGD. Approximately 66% of patients with CGD experience chronic and/or acute GI inflammation throughout their lifetime. […] Patients may present with diarrhea, abdominal pain, constipation, weight loss, failure to thrive, presence of granulomas, and perianal and liver abscesses.

• #61 Chronic Granulomatous Disease (CGD) – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd

  Chronic granulomatous disease is characterized by white blood cells that cannot produce activated oxygen compounds and by defects in phagocytic cell microbicidal function. Manifestations include recurrent infections; multiple granulomatous lesions of the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts; abscesses; lymphadenitis; hypergammaglobulinemia; elevated erythrocyte sedimentation rate; and anemia. […] Chronic granulomatous disease usually begins with recurrent abscesses during early childhood; in a few patients, onset is delayed until the early teens. […] Multiple granulomatous lesions occur in the lungs, liver, lymph nodes, and gastrointestinal and genitourinary tracts (causing obstruction). Suppurative lymphadenitis, hepatosplenomegaly, pneumonia, and hematologic evidence of chronic infection are common. Skin, lymph node, lung, liver, and perianal abscesses; stomatitis; and osteomyelitis also occur. […] Growth may be delayed. […] X-linked carriers of gp91phox chronic granulomatous disease may be asymptomatic or develop various, usually less severe, symptoms, including joint pain with a lupus-like syndrome, aphthous ulcers, chorioretinal lesions, and photosensitivity.

• #62 Chronic granulomatous disease – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/703

• #63 Chronic granulomatous disease – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/703

  Chronic granulomatous disease (CGD) is caused by genetic deficiency of components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, which is necessary for effective phagocyte killing. […] Results in recurrent serious bacterial and fungal infections, most commonly with Staphylococcus aureus, Aspergillus species, Nocardia species, Serratia marcescens, and Burkholderia cepacia. […] Infections include pneumonia, superficial and deep abscesses, lymphadenitis, and osteomyelitis. […] History of prior infections, shortness of breath, perianal pain, flank pain, red skin lesion, abnormal chest examination, rigors, fever, chronic lymphadenopathy, poor growth, joint pain, facial pain, chorioretinal lesions, and skin scarring are key diagnostic factors. […] Other diagnostic factors include fatigue, diarrhea, abdominal pain, cough, anorexia, arthralgias, nausea and vomiting, bloody urine, abnormal urinary flow, hepatosplenomegaly, family history of discoid lupus, oral ulcer, and skin rash. […] Risk factors include family history of CGD, age 5 years, male sex, abnormally skewed X chromosome inactivation in X-linked carriers, and myeloperoxidase and FCgammaRIIIb polymorphisms.

• #64 Chronic granulomatous disease

  https://johnsonmemorial.org/jmh-health/disease-conditions/con-20256720

  People with chronic granulomatous disease experience serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay. […] It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms associated with infections include: Fever. Chest pain when inhaling or exhaling. Swollen and sore lymph glands. An ongoing runny nose. Skin irritation that may include a rash, swelling or redness. Swelling and redness in the mouth. Gastrointestinal problems that may include: Vomiting. Diarrhea. Stomach pain. Bloody stool. A painful pocket of pus near the anus.

• #65 Chronic granulomatous disease symptoms, treatments & forums | PatientsLikeMe

  https://www.patientslikeme.com/conditions/chronic-granulomatous-disease

  Chronic granulomatous disease is a congenital disorder in which the immune system (phagocytes) do not function properly. These patients are susceptible to recurrent bacterial and fungal infections such as pneumonia and skin infections. […] Common symptom Fatigue […] 5 chronic granulomatous disease patients report severe fatigue (71%) […] 2 chronic granulomatous disease patients report moderate fatigue (28%) […] 0 chronic granulomatous disease patients report mild fatigue (0%) […] 0 chronic granulomatous disease patients report no fatigue (0%) […] Common symptom Pain […] 4 chronic granulomatous disease patients report severe pain (57%) […] 2 chronic granulomatous disease patients report moderate pain (28%) […] 0 chronic granulomatous disease patients report mild pain (0%) […] 1 a chronic granulomatous disease patient reports no pain (14%)

• #66 Chronic granulomatous disease – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/703

  Chronic granulomatous disease (CGD) is caused by genetic deficiency of components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, which is necessary for effective phagocyte killing. […] Results in recurrent serious bacterial and fungal infections, most commonly with Staphylococcus aureus, Aspergillus species, Nocardia species, Serratia marcescens, and Burkholderia cepacia. […] Infections include pneumonia, superficial and deep abscesses, lymphadenitis, and osteomyelitis. […] History of prior infections, shortness of breath, perianal pain, flank pain, red skin lesion, abnormal chest examination, rigors, fever, chronic lymphadenopathy, poor growth, joint pain, facial pain, chorioretinal lesions, and skin scarring are key diagnostic factors. […] Other diagnostic factors include fatigue, diarrhea, abdominal pain, cough, anorexia, arthralgias, nausea and vomiting, bloody urine, abnormal urinary flow, hepatosplenomegaly, family history of discoid lupus, oral ulcer, and skin rash. […] Risk factors include family history of CGD, age 5 years, male sex, abnormally skewed X chromosome inactivation in X-linked carriers, and myeloperoxidase and FCgammaRIIIb polymorphisms.

• #67 Chronic Granulomatous Disease: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21157-chronic-granulomatous-disease-cgd

  Chronic granulomatous disease, or CGD, is a genetic condition where white blood cells are unable to protect your body from potentially harmful bacteria and fungi. This leaves you susceptible to serious infections. […] Signs and symptoms of CGD usually appear in childhood but can appear at any age. The most common symptom is recurrent bacterial and fungal infections, which can be serious. […] Its also common for people with CGD to develop pneumonia and infections in other parts of their bodies like their skin, livers, bones or lymph nodes. […] People with CGD often develop infections in their skin, lungs, lymph nodes and liver. CGD can increase your risk of developing abscesses (pus-filled pockets) in your organs. […] Other signs or symptoms could include: Itchy, irritated skin. Runny nose. Chest pain when breathing. Swelling in the lymph nodes. Abscesses in your liver, lungs, skin or spleen. Granulomas (masses of cells that develop at sites of inflammation or infection). Chronic abdominal pain with diarrhea, nausea and vomiting. Liver function test abnormalities.

• #68 Chronic Granulomatous Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK493171/

  Chronic granulomatous diseases (CGD) are a group of recurrent life-threatening infections caused by a hereditary defect in forming reactive oxygen species. […] First identified in the 1950s, chronic granulomatous disease (CGD) is a rare heterogeneous condition characterized by a series of recurrent life-threatening infections. […] Children with CGD suffer from numerous recurrent bacterial and fungal infections. Symptoms typically begin within the first 2 years of life; however, some experience symptoms later in life. The median age at diagnosis is 2.5 to 3 years. Diagnosis may not be made until later childhood or adulthood in patients with mild disease. […] The majority of patients experience their first CGD symptoms during their first year of life, including infections, dermatitis, gastrointestinal complications (obstruction or intermittent bloody diarrhea from colitis), and failure to thrive.

• #69

  https://www.nicklauschildrens.org/conditions/chronic-granulomatous-disease

  Children with CGD have recurrent illnesses and frequently get very sick from many of the bacterial infections that normally cause little or only mild infections in well children. […] Most children (75%) present early with severe recurrent bacterial and fungal infections, frequently involving the skin (abscesses and boils), lungs (pneumonia and lung abscesses), swollen lymph nodes, diarrhea, and liver and spleen abscesses. […] Severe generalized infection (sepsis) and bone infections may also occur. […] Symptoms related to the presence of granulomas causing inflammation and/or obstructing the gut (e.g.difficulty swallowing, pain, nausea and vomiting and bloody diarrhea etc.) and genitourinary system (e.g. painful urination etc) are frequent.

• #70 Chronic Granulomatous Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK493171/

  Chronic granulomatous diseases (CGD) are a group of recurrent life-threatening infections caused by a hereditary defect in forming reactive oxygen species. […] First identified in the 1950s, chronic granulomatous disease (CGD) is a rare heterogeneous condition characterized by a series of recurrent life-threatening infections. […] Children with CGD suffer from numerous recurrent bacterial and fungal infections. Symptoms typically begin within the first 2 years of life; however, some experience symptoms later in life. The median age at diagnosis is 2.5 to 3 years. Diagnosis may not be made until later childhood or adulthood in patients with mild disease. […] The majority of patients experience their first CGD symptoms during their first year of life, including infections, dermatitis, gastrointestinal complications (obstruction or intermittent bloody diarrhea from colitis), and failure to thrive.

• #71 Chronic Granulomatous Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK493171/

  Chronic granulomatous diseases (CGD) are a group of recurrent life-threatening infections caused by a hereditary defect in forming reactive oxygen species. […] First identified in the 1950s, chronic granulomatous disease (CGD) is a rare heterogeneous condition characterized by a series of recurrent life-threatening infections. […] Children with CGD suffer from numerous recurrent bacterial and fungal infections. Symptoms typically begin within the first 2 years of life; however, some experience symptoms later in life. The median age at diagnosis is 2.5 to 3 years. Diagnosis may not be made until later childhood or adulthood in patients with mild disease. […] The majority of patients experience their first CGD symptoms during their first year of life, including infections, dermatitis, gastrointestinal complications (obstruction or intermittent bloody diarrhea from colitis), and failure to thrive.

• #72 Chronic Granulomatous Disease (CGD) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/chronic-granulomatous-disease-cgd

  Chronic granulomatous disease (CGD) is an inherited immune system disorder that occurs when a type of white blood cell (phagocyte), which usually helps the body fight infection, does not work properly. […] Children with CGD are often healthy at birth but develop severe infections in infancy and during early childhood. Rarely, in milder forms, the diagnosis doesn’t become clear for years or decades. […] Because they are unable to fight off infections, children with CGD often get very sick from bacteria that could be mild or cause no disease at all in a healthy child. These infections may affect the lungs, skin, liver, lymph nodes and intestines. […] Children may also develop masses of inflammatory tissue called granulomas in response to chronic infections. These granulomas usually develop in the skin, gastrointestinal tract and genitourinary tract.

• #73 Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era

  https://www.mdpi.com/2077-0383/13/15/4435

  Chronic granulomatous disease (CGD) is a group of rare primary inborn errors of immunity characterised by a defect in the phagocyte respiratory burst, which leads to severe and life-threatening infective and inflammatory complications. […] The clinical spectrum of CGD varies in terms of disease manifestations, severity and age at presentation, which presents a challenge to recognition and diagnosis. Severe cases (predominantly X-linked recessive in inheritance), tend to present early at 9–14 months of age, and are diagnosed early at 2.1–4.9 years. Milder cases (predominantly autosomal recessive) tend to present later at 2.5–3.4 years, and are also diagnosed later at 5.8–8.8 years. […] CGD is characterised by four major clinical features: (1) predisposition to infection by a classically described subset of catalase-positive bacteria and fungi; (2) development of tissue granulomas in respiratory, gastrointestinal and genitourinary tracts, which may lead to local complications; (3) predisposition to inflammatory bowel disease (IBD), which may be very early in onset and severe; and (4) other autoinflammatory or autoimmune complications.

• #74 Chronic granulomatous disease: a review of the infectious and inflammatory complications | Clinical and Molecular Allergy | Full Text

  https://clinicalmolecularallergy.biomedcentral.com/articles/10.1186/1476-7961-9-10

  Most patients present with infectious illness, which include sinopulmonary disease, abscesses, or lymphadenitis. […] Over 90% of the patients with confirmed CGD have severe respiratory burst defects resulting in little or no expression of superoxide radicals. […] Typical infections include purulent bacterial infections (such as pneumonias, sinusitis or liver abscess) or necrotizing fungal infections of deep tissue or bone. […] Failure to thrive was also observed in the UK series reported, where the incidence of growth failure was much higher and listed at 75%. […] The disease is heterogeneous in its manifestations, related to the subtypes, and severity of the associated macrophage defect.

• #75

  https://link.springer.com/article/10.1007/s12325-017-0636-2

  Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any of the five subunits of the NADPH oxidase complex responsible for the respiratory burst in phagocytic leukocytes. Patients with CGD are at increased risk of life-threatening infections with catalase-positive bacteria and fungi and inflammatory complications such as CGD colitis. […] Inflammatory complications are a significant contributor to morbidity in CGD, and they are often refractory to standard therapies. […] CGD may present at any age from infancy to late adulthood; however, the vast majority of patients are diagnosed at less than 5 years of age. […] In general, patients with X-linked CGD have a more severe disease course with earlier age at presentation and earlier age of death. […] The median age of death remains around 30-40 years, and patients tend to become increasingly debilitated with poor quality of life with advancing age.

• #76 Chronic Granulomatous Disease – Baby Detect

  https://babydetect.com/en/chronic-granulomatous-disease-cyba-ncf1-ncf2-ncf4-and-cybb-genes/

  CGD is a lifelong condition that requires lifetime management and regular follow-up with an immunology specialist and a multidisciplinary approach to care, including pediatrics and genetics. […] Aggressive approach to infections and antifungal and antibacterial prophylaxis has increasingly improved survival in CGD, and is now approximately 90% at age ten years. Patients with X-linked CGD tend to have lower overall rates of survival when compared to those with the autossomal recessive CGD.

• #77 Chronic Granulomatous Disease – ESID

  https://esid.org/chronic-granulomatous-disease/

  Male or female patient with abnormal NBT or respiratory burst in activated neutrophils (less than 5% of control) who has one of the following: […] Patients with the X-linked form of CGD (60-70% of patients) tend to present earlier and have more severe disease than patients with autosomal recessive forms. Most patients with X-CGD develop failure to thrive, severe bacterial adenitis, abscesses or osteomyelitis within the first year of life. Pneumonia and lymphadenitis due to catalase-positive organisms (particularly Staphylococcus) or fungi are the most common infections. Symptoms of intestinal or urinary tract obstruction can be caused by granuloma formation. […] Rarely, in both the X-linked and autosomal recessive forms, the first severe symptoms are not recognized until adulthood.

• #78 Chronic Granulomatous Disease – ESID

  https://esid.org/chronic-granulomatous-disease/

  Male or female patient with abnormal NBT or respiratory burst in activated neutrophils (less than 5% of control) who has one of the following: […] Patients with the X-linked form of CGD (60-70% of patients) tend to present earlier and have more severe disease than patients with autosomal recessive forms. Most patients with X-CGD develop failure to thrive, severe bacterial adenitis, abscesses or osteomyelitis within the first year of life. Pneumonia and lymphadenitis due to catalase-positive organisms (particularly Staphylococcus) or fungi are the most common infections. Symptoms of intestinal or urinary tract obstruction can be caused by granuloma formation. […] Rarely, in both the X-linked and autosomal recessive forms, the first severe symptoms are not recognized until adulthood.

• #79 Chronic granulomatous disease – Wikipedia

  https://en.wikipedia.org/wiki/Chronic_granulomatous_disease

  Classically, patients with chronic granulomatous disease will have recurrent bouts of infection due to the decreased capacity of their immune system to fight off disease-causing organisms. The recurrent infections they acquire are specific and are, in decreasing order of frequency: pneumonia, abscesses of the skin, tissues, and organs, septic arthritis, osteomyelitis, bacteremia/fungemia, superficial skin infections such as cellulitis or impetigo. […] Most people with CGD are diagnosed in childhood, usually, before age 5. Early diagnosis is important since these people can be placed on antibiotics to ward off infections before they occur. […] Patients with CGD can usually resist infections of catalase-negative bacteria but are susceptible to catalase-positive bacteria. […] Without treatment, children often die in the first decade of life. The increased severity of X-linked CGD results in a decreased survival rate of patients, as 20% of X-linked patients die of CGD-related causes by the age of 10, whereas 20% of autosomal recessive patients die by the age of 35. […] The average patient now survives at least 40 years.

• #80 Chronic Granulomatous Disease: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1116022-overview

  Fungal infections remain a major determinant of survival in chronic granulomatous disease (CGD). Morbidity secondary to infection or granulomatous complications remains significant for many patients, particularly those with the X-linked form. […] Patients with CGD and modest residual production of reactive oxygen intermediates (ROIs) have significantly less severe illness and a greater likelihood of long-term survival than patients with little residual ROI production.

• #81 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Prior research studies have shown that female X-linked carriers of chronic granulomatous disease (CGD) mothers, daughters, sisters, aunts, and grandmothers exhibit some symptoms related to the disease. The most common are discoid lupus (which causes round lesions on the skin), mouth ulcers, and joint pain. […] A new study that allowed X-linked carriers of CGD to self-report their symptoms reveals a broader range of health problems associated with carrier status, requiring appropriate diagnosis and treatment. […] Over the last several years, several studies have shown that in addition to passing on the CGD gene to their children, X-linked carriers can suffer symptoms themselves. Those include: Susceptibility to CGD-related infections. Immune dysregulation and autoimmunity. Systemic lupus/discoid lupus. Mouth ulcers. Colitis. Arthritis.

• #82 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Prior research studies have shown that female X-linked carriers of chronic granulomatous disease (CGD) mothers, daughters, sisters, aunts, and grandmothers exhibit some symptoms related to the disease. The most common are discoid lupus (which causes round lesions on the skin), mouth ulcers, and joint pain. […] A new study that allowed X-linked carriers of CGD to self-report their symptoms reveals a broader range of health problems associated with carrier status, requiring appropriate diagnosis and treatment. […] Over the last several years, several studies have shown that in addition to passing on the CGD gene to their children, X-linked carriers can suffer symptoms themselves. Those include: Susceptibility to CGD-related infections. Immune dysregulation and autoimmunity. Systemic lupus/discoid lupus. Mouth ulcers. Colitis. Arthritis.

• #83 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Prior research studies have shown that female X-linked carriers of chronic granulomatous disease (CGD) mothers, daughters, sisters, aunts, and grandmothers exhibit some symptoms related to the disease. The most common are discoid lupus (which causes round lesions on the skin), mouth ulcers, and joint pain. […] A new study that allowed X-linked carriers of CGD to self-report their symptoms reveals a broader range of health problems associated with carrier status, requiring appropriate diagnosis and treatment. […] Over the last several years, several studies have shown that in addition to passing on the CGD gene to their children, X-linked carriers can suffer symptoms themselves. Those include: Susceptibility to CGD-related infections. Immune dysregulation and autoimmunity. Systemic lupus/discoid lupus. Mouth ulcers. Colitis. Arthritis.

• #84 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Prior research studies have shown that female X-linked carriers of chronic granulomatous disease (CGD) mothers, daughters, sisters, aunts, and grandmothers exhibit some symptoms related to the disease. The most common are discoid lupus (which causes round lesions on the skin), mouth ulcers, and joint pain. […] A new study that allowed X-linked carriers of CGD to self-report their symptoms reveals a broader range of health problems associated with carrier status, requiring appropriate diagnosis and treatment. […] Over the last several years, several studies have shown that in addition to passing on the CGD gene to their children, X-linked carriers can suffer symptoms themselves. Those include: Susceptibility to CGD-related infections. Immune dysregulation and autoimmunity. Systemic lupus/discoid lupus. Mouth ulcers. Colitis. Arthritis.

• #85 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Prior research studies have shown that female X-linked carriers of chronic granulomatous disease (CGD) mothers, daughters, sisters, aunts, and grandmothers exhibit some symptoms related to the disease. The most common are discoid lupus (which causes round lesions on the skin), mouth ulcers, and joint pain. […] A new study that allowed X-linked carriers of CGD to self-report their symptoms reveals a broader range of health problems associated with carrier status, requiring appropriate diagnosis and treatment. […] Over the last several years, several studies have shown that in addition to passing on the CGD gene to their children, X-linked carriers can suffer symptoms themselves. Those include: Susceptibility to CGD-related infections. Immune dysregulation and autoimmunity. Systemic lupus/discoid lupus. Mouth ulcers. Colitis. Arthritis.

• #86 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Prior research studies have shown that female X-linked carriers of chronic granulomatous disease (CGD) mothers, daughters, sisters, aunts, and grandmothers exhibit some symptoms related to the disease. The most common are discoid lupus (which causes round lesions on the skin), mouth ulcers, and joint pain. […] A new study that allowed X-linked carriers of CGD to self-report their symptoms reveals a broader range of health problems associated with carrier status, requiring appropriate diagnosis and treatment. […] Over the last several years, several studies have shown that in addition to passing on the CGD gene to their children, X-linked carriers can suffer symptoms themselves. Those include: Susceptibility to CGD-related infections. Immune dysregulation and autoimmunity. Systemic lupus/discoid lupus. Mouth ulcers. Colitis. Arthritis.

• #87 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Prior research studies have shown that female X-linked carriers of chronic granulomatous disease (CGD) mothers, daughters, sisters, aunts, and grandmothers exhibit some symptoms related to the disease. The most common are discoid lupus (which causes round lesions on the skin), mouth ulcers, and joint pain. […] A new study that allowed X-linked carriers of CGD to self-report their symptoms reveals a broader range of health problems associated with carrier status, requiring appropriate diagnosis and treatment. […] Over the last several years, several studies have shown that in addition to passing on the CGD gene to their children, X-linked carriers can suffer symptoms themselves. Those include: Susceptibility to CGD-related infections. Immune dysregulation and autoimmunity. Systemic lupus/discoid lupus. Mouth ulcers. Colitis. Arthritis.

• #88 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Prior research studies have shown that female X-linked carriers of chronic granulomatous disease (CGD) mothers, daughters, sisters, aunts, and grandmothers exhibit some symptoms related to the disease. The most common are discoid lupus (which causes round lesions on the skin), mouth ulcers, and joint pain. […] A new study that allowed X-linked carriers of CGD to self-report their symptoms reveals a broader range of health problems associated with carrier status, requiring appropriate diagnosis and treatment. […] Over the last several years, several studies have shown that in addition to passing on the CGD gene to their children, X-linked carriers can suffer symptoms themselves. Those include: Susceptibility to CGD-related infections. Immune dysregulation and autoimmunity. Systemic lupus/discoid lupus. Mouth ulcers. Colitis. Arthritis.

• #89 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Though the vast majority of participants rated their health as good, about 34 persons experienced impairments in daily living activities like showering or cleaning the house, and a subset reported not being able to work a job to their full capacity. Both groups reported health challenges like fatigue and pain, including painful joints, psychiatric symptoms, some systemic conditions, and sleep disturbance. […] Of those carriers who had a skin disease, about 50 percent said they had a photosensitive rash (a rash that intensifies if exposed to sunlight). In addition, some had delayed wound healing, discoid lupus, alopecia (loss of hair), and cystic acne, all common in CGD. […] While pulmonary symptoms weren’t common, the majority of carriers who did have them reported pneumonia but also interstitial lung disease, pulmonary nodules, pleurisy (inflammation of the covering of the lungs), and granulomas in the lungs all found in persons with CGD as well.

• #90 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Though the vast majority of participants rated their health as good, about 34 persons experienced impairments in daily living activities like showering or cleaning the house, and a subset reported not being able to work a job to their full capacity. Both groups reported health challenges like fatigue and pain, including painful joints, psychiatric symptoms, some systemic conditions, and sleep disturbance. […] Of those carriers who had a skin disease, about 50 percent said they had a photosensitive rash (a rash that intensifies if exposed to sunlight). In addition, some had delayed wound healing, discoid lupus, alopecia (loss of hair), and cystic acne, all common in CGD. […] While pulmonary symptoms weren’t common, the majority of carriers who did have them reported pneumonia but also interstitial lung disease, pulmonary nodules, pleurisy (inflammation of the covering of the lungs), and granulomas in the lungs all found in persons with CGD as well.

• #91 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Though the vast majority of participants rated their health as good, about 34 persons experienced impairments in daily living activities like showering or cleaning the house, and a subset reported not being able to work a job to their full capacity. Both groups reported health challenges like fatigue and pain, including painful joints, psychiatric symptoms, some systemic conditions, and sleep disturbance. […] Of those carriers who had a skin disease, about 50 percent said they had a photosensitive rash (a rash that intensifies if exposed to sunlight). In addition, some had delayed wound healing, discoid lupus, alopecia (loss of hair), and cystic acne, all common in CGD. […] While pulmonary symptoms weren’t common, the majority of carriers who did have them reported pneumonia but also interstitial lung disease, pulmonary nodules, pleurisy (inflammation of the covering of the lungs), and granulomas in the lungs all found in persons with CGD as well.

• #92 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Some of those health problems include: Increased risk of infection. Lupus-like symptoms such as skin infections and rashes, joint pain, chronic fatigue, and photosensitivity. Gastrointestinal problems. Slower wound healing. Raynaud’s Syndrome in which poor circulation causes extremities to be cold and numb. High levels of anxiety and depression. […] However, recent studies show that carriers have autoimmune and inflammatory manifestations and that it’s important for women to undergo testing to determine how much they may be affected.

• #93 Study finds CGD carriers exhibit symptoms of disorder | Immune Deficiency Foundation

  https://primaryimmune.org/resources/news-articles/study-finds-cgd-carriers-exhibit-symptoms-disorder

  Some of those health problems include: Increased risk of infection. Lupus-like symptoms such as skin infections and rashes, joint pain, chronic fatigue, and photosensitivity. Gastrointestinal problems. Slower wound healing. Raynaud’s Syndrome in which poor circulation causes extremities to be cold and numb. High levels of anxiety and depression. […] However, recent studies show that carriers have autoimmune and inflammatory manifestations and that it’s important for women to undergo testing to determine how much they may be affected.

• #94 Chronic Granulomatous Disease in Adults | About X-Linked CGD

  https://www.cgdconnections.com/about-cgd/x-linked-carriers

  X-linked carriers may experience CGD symptoms. While not every carrier has symptoms, its possible that more carriers experience symptoms and/or are at risk of infection than previously believed. CGD symptoms are easily mistaken for other conditions with similar symptoms, like lupus. Symptoms may also look or feel different for you than your child with CGD. […] Common symptoms for X-linked carriers may include: Skin rash on face, hands, and chest, Sensitivity to the sun, Pain and swelling in the joints, Feeling tired all of the time, Gastrointestinal (GI) inflammation that could lead to weight loss. […] Up to 15% of X-linked carriers may experience severe infections. If left untreated, those infections may become potentially life-threatening. […] Its possible for the immune system to change and begin working less effectively over time, which may increase your risk of CGD-related infections. Regular testing with a DHR test allows your doctor to set a baseline and track your DHR values.

• #95 Chronic Granulomatous Disease in Adults | About X-Linked CGD

  https://www.cgdconnections.com/about-cgd/x-linked-carriers

  X-linked carriers may experience CGD symptoms. While not every carrier has symptoms, its possible that more carriers experience symptoms and/or are at risk of infection than previously believed. CGD symptoms are easily mistaken for other conditions with similar symptoms, like lupus. Symptoms may also look or feel different for you than your child with CGD. […] Common symptoms for X-linked carriers may include: Skin rash on face, hands, and chest, Sensitivity to the sun, Pain and swelling in the joints, Feeling tired all of the time, Gastrointestinal (GI) inflammation that could lead to weight loss. […] Up to 15% of X-linked carriers may experience severe infections. If left untreated, those infections may become potentially life-threatening. […] Its possible for the immune system to change and begin working less effectively over time, which may increase your risk of CGD-related infections. Regular testing with a DHR test allows your doctor to set a baseline and track your DHR values.

• #96 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001239.htm

  Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. CGD is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #97 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001239.htm

  Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. CGD is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #98 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001239.htm

  Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. CGD is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #99 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001239.htm

  Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. CGD is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #100 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001239.htm

  Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. CGD is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #101 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001239.htm

  Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. CGD is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #102 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001239.htm

  Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. CGD is characterized by repeated and severe infections. […] CGD can cause many types of skin infections that are hard to treat, including: Blisters or sores on the face (impetigo), Eczema, Growths filled with pus (abscesses), Pus-filled lumps in the skin (boils). […] CGD can also cause: Persistent diarrhea, Swollen lymph nodes in the neck, Lung infections, such as pneumonia or lung abscess. […] Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections. […] CGD may cause these complications: Bone damage and infections, Chronic infections in the nose, Pneumonia that keeps coming back and is hard to cure, Lung damage, Skin damage, Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them.

• #103 Chronic Granulomatous Disease (CGD) | NIAID: National Institute of Allergy and Infectious Diseases

  https://www.niaid.nih.gov/diseases-conditions/chronic-granulomatous-disease-cgd

  People with CGD are highly susceptible to infections caused by certain bacteria and fungi, such as Staphylococcus aureus, Serratia marcescens, Burkholderia cepacia, Nocardia species, and Aspergillus species. […] These people may develop abscesses (boils) in their lungs, liver, spleen, bones, or skin; and masses of cells, called granulomas, that can obstruct the bowel or urinary tract. […] In some people, granulomas can cause an inflammatory bowel disease similar to Crohns Disease. […] In addition, heart or kidney problems, diabetes, and autoimmune disease may occur in people with CGD, but this varies depending on which gene is mutated.

• #104 Chronic Granulomatous Disease (CGD) | NIAID: National Institute of Allergy and Infectious Diseases

  https://www.niaid.nih.gov/diseases-conditions/chronic-granulomatous-disease-cgd

  People with CGD are highly susceptible to infections caused by certain bacteria and fungi, such as Staphylococcus aureus, Serratia marcescens, Burkholderia cepacia, Nocardia species, and Aspergillus species. […] These people may develop abscesses (boils) in their lungs, liver, spleen, bones, or skin; and masses of cells, called granulomas, that can obstruct the bowel or urinary tract. […] In some people, granulomas can cause an inflammatory bowel disease similar to Crohns Disease. […] In addition, heart or kidney problems, diabetes, and autoimmune disease may occur in people with CGD, but this varies depending on which gene is mutated.

• #105 Chronic Granulomatous Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/chronic-granulomatous-disease

  Chronic granulomatous disease (CGD) is a condition that prevents the immune system from fighting off certain infections. The inherited genetic disorder can be life-threatening and life-limiting without accurate diagnosis, customized treatment and long-term observation. […] Children with CGD can easily fight off some infections like viruses, but not others that need the body’s natural ability to control certain types of bacteria and fungi. While symptoms of this condition usually develop in infancy or early childhood; in milder forms, it may not be diagnosed until adolescence or adulthood. […] Signs and symptoms of the disorder vary, but may include: Frequent bacterial and fungal infections that affect the lungs, lymph nodes, liver, bones, skin or, in rare cases, the brain. These infections may be treated initially with antibiotics but keep coming back. Swollen lymph nodes, including hard lumps in the groin area or back of the ears. Tight, ball-shaped areas of inflamed tissue (called granulomas), are commonly found in the gastrointestinal tract or genitourinary system. Granulomas can cause obstructions in body tissues or organs. Abscesses in the liver, spleen, lungs, bones or on the skin. Sores with rashes or pus anywhere on the body, including the scalp and inside of nose. Recurring or persistent diarrhea. Pain when urinating. Sores around the bottom. Warm, tender or swollen areas. Chronic runny nose and/or fever. Two or more cases of pneumonia in one year. In addition, wounds on any part of the body may have trouble healing in children with CGD.

• #106 Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era

  https://www.mdpi.com/2077-0383/13/15/4435

  The overall incidence and severity of infective complications is highest in the first decade of life, and lower thereafter. […] Most pathogens that cause infection in CGD patients also cause sporadic infection in immunocompetent hosts, but infections in CGD patients are more likely to be severe and frequent. […] Children with CGD are more likely to experience failure to thrive, organ dysfunction, poor quality of life, and increased risk of secondary inflammatory complications, such as haemophagocytic lymphohistiocytosis (HLH). […] Prior to the advent of modern therapies, most children with CGD died before 10 years of age, and infection, particularly invasive fungal infection, remains the leading cause of death. […] Mortality risk is influenced by organ dysfunction and the degree of detectable residual respiratory burst activity.

• #107 Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era

  https://www.mdpi.com/2077-0383/13/15/4435

  The overall incidence and severity of infective complications is highest in the first decade of life, and lower thereafter. […] Most pathogens that cause infection in CGD patients also cause sporadic infection in immunocompetent hosts, but infections in CGD patients are more likely to be severe and frequent. […] Children with CGD are more likely to experience failure to thrive, organ dysfunction, poor quality of life, and increased risk of secondary inflammatory complications, such as haemophagocytic lymphohistiocytosis (HLH). […] Prior to the advent of modern therapies, most children with CGD died before 10 years of age, and infection, particularly invasive fungal infection, remains the leading cause of death. […] Mortality risk is influenced by organ dysfunction and the degree of detectable residual respiratory burst activity.

• #108 Chronic Granulomatous Disease: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21157-chronic-granulomatous-disease-cgd

  The outlook is generally very good. Healthcare providers can usually manage symptoms of CGD and prevent serious infections. Treatment may continue indefinitely to keep infections and inflammation from becoming severe. […] With ongoing treatment and support, many people with CGD live active and fulfilling lives. Prompt treatment is necessary so that your provider can treat infections before they become severe or life-threatening.

• #109 Pediatric Chronic Granulomatous Disease: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/956936-overview

  Chronic granulomatous disease (CGD), an inherited disorder of phagocytic cells, results from an inability of phagocytes to produce bactericidal superoxide anions (O2-). […] These deficits lead to recurrent, life-threatening bacterial and fungal infections. […] The hallmark of CGD is early onset of severe, recurrent bacterial and fungal infections. Common presentations of the condition include the following: Skin infections, Pneumonia, Lung abscesses, Suppurative lymphadenitis, Diarrhea secondary to enteritis, Perianal or perirectal abscesses, Hepatic or splenic abscesses. […] A characteristic manifestation of CGD is the development of granulomas in the skin, gastrointestinal (GI) tract, and genitourinary (GU) tract. […] The prognosis for patients with CGD has improved over the past decades. […] The highest mortality rate is in early childhood. The usual cause of death is infection. However, CGD has significant clinical heterogeneity in the severity of disease in affected patients.

• #110 Chronic granulomatous disease – Wikipedia

  https://en.wikipedia.org/wiki/Chronic_granulomatous_disease

  Classically, patients with chronic granulomatous disease will have recurrent bouts of infection due to the decreased capacity of their immune system to fight off disease-causing organisms. The recurrent infections they acquire are specific and are, in decreasing order of frequency: pneumonia, abscesses of the skin, tissues, and organs, septic arthritis, osteomyelitis, bacteremia/fungemia, superficial skin infections such as cellulitis or impetigo. […] Most people with CGD are diagnosed in childhood, usually, before age 5. Early diagnosis is important since these people can be placed on antibiotics to ward off infections before they occur. […] Patients with CGD can usually resist infections of catalase-negative bacteria but are susceptible to catalase-positive bacteria. […] Without treatment, children often die in the first decade of life. The increased severity of X-linked CGD results in a decreased survival rate of patients, as 20% of X-linked patients die of CGD-related causes by the age of 10, whereas 20% of autosomal recessive patients die by the age of 35. […] The average patient now survives at least 40 years.

• #111

  https://link.springer.com/article/10.1007/s12325-017-0636-2

  The lungs and chest wall are the most common sites of infection, and Aspergillus fumigatus followed by A. nidulans are the most commonly isolated pathogens. […] CGD was initially described as a fatal granulomatous disease of childhood, and historically, most patients with CGD died by 10 years of age. However, improved awareness of the disease and advances in management have led to a marked improvement in life expectancy.

• #112 Chronic Granulomatous Disease: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1116022-overview

  Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any of the five subunits of the NADPH oxidase complex responsible for the respiratory burst in phagocytic leukocytes. Patients with CGD are at increased risk of life-threatening infections with catalase-positive bacteria and fungi and inflammatory complications such as CGD colitis. […] In approximately two thirds of patients, the first symptoms of CGD appear during the first year of life in the form of infections, dermatitis (sometimes seen at birth), gastrointestinal complications (obstruction or intermittent bloody diarrhea due to colitis), and a failure to thrive. […] The long-term survival of patients who develop symptoms after the end of the first year of life is significantly better than that of patients whose illness starts in infancy. Survival rates are variable but improving; approximately 50% of patients survive to age 30-40 years.

• #113 Chronic Granulomatous Disease – CheckOrphan

  https://checkorphan.org/disease/chronic-granulomatous-disease/

  CGD is usually diagnosed before a child is 5 years old. Some males and females with milder forms of CGD may not show signs until they are a teen or an adult. Common signs and symptoms to look for include: […] Other symptoms include diarrhea, weight loss, or abdominal pain due to inflammation in the intestines, pain or difficulty eating or going to the bathroom, fever, cough, joint pain, and being tired all of the time. […] The prognosis of CGD is improving with advancements in treatment. Patients can prevent infection with good skin hygiene, antifungals, and antibiotics. Autosomal recessive forms of CGD have a better prognosis compared to X-linked CGD. On average, CGD patients survive at least 40 years, especially with long-term prophylactic antimicrobials. Often a severe fungal or bacterial infection can be fatal. Aspergillus is the most common fungal respiratory infection and is the most common cause of death in CGD. Mortality and morbidity will continue to decrease as advances are made in prophylactic methods, HSCT, and other immunomodulatory therapy.

• #114 Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era

  https://www.mdpi.com/2077-0383/13/15/4435

  The overall incidence and severity of infective complications is highest in the first decade of life, and lower thereafter. […] Most pathogens that cause infection in CGD patients also cause sporadic infection in immunocompetent hosts, but infections in CGD patients are more likely to be severe and frequent. […] Children with CGD are more likely to experience failure to thrive, organ dysfunction, poor quality of life, and increased risk of secondary inflammatory complications, such as haemophagocytic lymphohistiocytosis (HLH). […] Prior to the advent of modern therapies, most children with CGD died before 10 years of age, and infection, particularly invasive fungal infection, remains the leading cause of death. […] Mortality risk is influenced by organ dysfunction and the degree of detectable residual respiratory burst activity.

• #115 Chronic Granulomatous Disease – CheckOrphan

  https://checkorphan.org/disease/chronic-granulomatous-disease/

  CGD is usually diagnosed before a child is 5 years old. Some males and females with milder forms of CGD may not show signs until they are a teen or an adult. Common signs and symptoms to look for include: […] Other symptoms include diarrhea, weight loss, or abdominal pain due to inflammation in the intestines, pain or difficulty eating or going to the bathroom, fever, cough, joint pain, and being tired all of the time. […] The prognosis of CGD is improving with advancements in treatment. Patients can prevent infection with good skin hygiene, antifungals, and antibiotics. Autosomal recessive forms of CGD have a better prognosis compared to X-linked CGD. On average, CGD patients survive at least 40 years, especially with long-term prophylactic antimicrobials. Often a severe fungal or bacterial infection can be fatal. Aspergillus is the most common fungal respiratory infection and is the most common cause of death in CGD. Mortality and morbidity will continue to decrease as advances are made in prophylactic methods, HSCT, and other immunomodulatory therapy.

• #116 Pediatric Chronic Granulomatous Disease: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/956936-overview

  Chronic granulomatous disease (CGD), an inherited disorder of phagocytic cells, results from an inability of phagocytes to produce bactericidal superoxide anions (O2-). […] These deficits lead to recurrent, life-threatening bacterial and fungal infections. […] The hallmark of CGD is early onset of severe, recurrent bacterial and fungal infections. Common presentations of the condition include the following: Skin infections, Pneumonia, Lung abscesses, Suppurative lymphadenitis, Diarrhea secondary to enteritis, Perianal or perirectal abscesses, Hepatic or splenic abscesses. […] A characteristic manifestation of CGD is the development of granulomas in the skin, gastrointestinal (GI) tract, and genitourinary (GU) tract. […] The prognosis for patients with CGD has improved over the past decades. […] The highest mortality rate is in early childhood. The usual cause of death is infection. However, CGD has significant clinical heterogeneity in the severity of disease in affected patients.

• #117 Chronic Granulomatous Disease – CheckOrphan

  https://checkorphan.org/disease/chronic-granulomatous-disease/

  CGD is usually diagnosed before a child is 5 years old. Some males and females with milder forms of CGD may not show signs until they are a teen or an adult. Common signs and symptoms to look for include: […] Other symptoms include diarrhea, weight loss, or abdominal pain due to inflammation in the intestines, pain or difficulty eating or going to the bathroom, fever, cough, joint pain, and being tired all of the time. […] The prognosis of CGD is improving with advancements in treatment. Patients can prevent infection with good skin hygiene, antifungals, and antibiotics. Autosomal recessive forms of CGD have a better prognosis compared to X-linked CGD. On average, CGD patients survive at least 40 years, especially with long-term prophylactic antimicrobials. Often a severe fungal or bacterial infection can be fatal. Aspergillus is the most common fungal respiratory infection and is the most common cause of death in CGD. Mortality and morbidity will continue to decrease as advances are made in prophylactic methods, HSCT, and other immunomodulatory therapy.

• #118

  https://link.springer.com/article/10.1007/s12325-017-0636-2

  The lungs and chest wall are the most common sites of infection, and Aspergillus fumigatus followed by A. nidulans are the most commonly isolated pathogens. […] CGD was initially described as a fatal granulomatous disease of childhood, and historically, most patients with CGD died by 10 years of age. However, improved awareness of the disease and advances in management have led to a marked improvement in life expectancy.

• #119

  https://link.springer.com/article/10.1007/s12325-017-0636-2

  Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any of the five subunits of the NADPH oxidase complex responsible for the respiratory burst in phagocytic leukocytes. Patients with CGD are at increased risk of life-threatening infections with catalase-positive bacteria and fungi and inflammatory complications such as CGD colitis. […] Inflammatory complications are a significant contributor to morbidity in CGD, and they are often refractory to standard therapies. […] CGD may present at any age from infancy to late adulthood; however, the vast majority of patients are diagnosed at less than 5 years of age. […] In general, patients with X-linked CGD have a more severe disease course with earlier age at presentation and earlier age of death. […] The median age of death remains around 30-40 years, and patients tend to become increasingly debilitated with poor quality of life with advancing age.

• #120 Chronic Granulomatous Disease: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21157-chronic-granulomatous-disease-cgd

  The outlook is generally very good. Healthcare providers can usually manage symptoms of CGD and prevent serious infections. Treatment may continue indefinitely to keep infections and inflammation from becoming severe. […] With ongoing treatment and support, many people with CGD live active and fulfilling lives. Prompt treatment is necessary so that your provider can treat infections before they become severe or life-threatening.

• #121 Chronic Granulomatous Disease: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21157-chronic-granulomatous-disease-cgd

  The outlook is generally very good. Healthcare providers can usually manage symptoms of CGD and prevent serious infections. Treatment may continue indefinitely to keep infections and inflammation from becoming severe. […] With ongoing treatment and support, many people with CGD live active and fulfilling lives. Prompt treatment is necessary so that your provider can treat infections before they become severe or life-threatening.

• #122 Chronic Granulomatous Disease Diagnosis and Overview | ACTIMMUNE® (Interferon gamma-1b) HCP

  https://www.actimmunehcp.com/chronic-granulomatous-disease/about-cgd/clinical-overview

  Knowing what to look for can aid in the diagnosis of CGD. Suspect CGD in a patient with frequent, repeat infections, unusually severe infections, and infections from a specific group of pathogens. […] Early diagnosis and prophylactic treatment benefits patients with CGD because they have a higher incidence of serious infections relative to the normal population. Serious infections can be life-threatening and result in long hospital stays.

• #123 Chronic Granulomatous Disease Diagnosis and Overview | ACTIMMUNE® (Interferon gamma-1b) HCP

  https://www.actimmunehcp.com/chronic-granulomatous-disease/about-cgd/clinical-overview

  Knowing what to look for can aid in the diagnosis of CGD. Suspect CGD in a patient with frequent, repeat infections, unusually severe infections, and infections from a specific group of pathogens. […] Early diagnosis and prophylactic treatment benefits patients with CGD because they have a higher incidence of serious infections relative to the normal population. Serious infections can be life-threatening and result in long hospital stays.

• #124 Chronic granulomatous disease – Wikipedia

  https://en.wikipedia.org/wiki/Chronic_granulomatous_disease

  Classically, patients with chronic granulomatous disease will have recurrent bouts of infection due to the decreased capacity of their immune system to fight off disease-causing organisms. The recurrent infections they acquire are specific and are, in decreasing order of frequency: pneumonia, abscesses of the skin, tissues, and organs, septic arthritis, osteomyelitis, bacteremia/fungemia, superficial skin infections such as cellulitis or impetigo. […] Most people with CGD are diagnosed in childhood, usually, before age 5. Early diagnosis is important since these people can be placed on antibiotics to ward off infections before they occur. […] Patients with CGD can usually resist infections of catalase-negative bacteria but are susceptible to catalase-positive bacteria. […] Without treatment, children often die in the first decade of life. The increased severity of X-linked CGD results in a decreased survival rate of patients, as 20% of X-linked patients die of CGD-related causes by the age of 10, whereas 20% of autosomal recessive patients die by the age of 35. […] The average patient now survives at least 40 years.

• #125 Chronic granulomatous disease (CGD) and other phagocytic cell disorders | Immune Deficiency Foundation

  https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/chronic-granulomatous-disease-cgd-and-other

  Liver abscesses occur in about one-third of individuals with CGD. A liver abscess can start out as fever and fatigue, but it may also cause pain over the right upper abdomen. […] Inflammation is also a significant problem in people with CGD, both with and without infection. Granulomas can cause trouble with intestinal or urinary function and can also form in the lung, the eye, or the skin. […] About 40-50% of individuals with CGD develop inflammation in the intestine that is not clearly due to a specific infection. Individuals with CGD can have severe abdominal pain, diarrhea, weight loss, and sometimes abnormal narrowing in parts of the intestines. […] The quality of life and longevity of patients with chronic granulomatous disease (CGD) has improved dramatically over the last 50 years with knowledge of the phagocytic cell abnormality and appreciation of the need for early, aggressive antibiotic therapy when infections occur. […] However, patients with CGD remain at significant risk for infection throughout life. They must take their prophylactic drugs, remain cautious, and be vigilant to seek early diagnosis and treatment for possible infections.

• #126 Chronic Granulomatous Disease – Baby Detect

  https://babydetect.com/en/chronic-granulomatous-disease-cyba-ncf1-ncf2-ncf4-and-cybb-genes/

  CGD is a lifelong condition that requires lifetime management and regular follow-up with an immunology specialist and a multidisciplinary approach to care, including pediatrics and genetics. […] Aggressive approach to infections and antifungal and antibacterial prophylaxis has increasingly improved survival in CGD, and is now approximately 90% at age ten years. Patients with X-linked CGD tend to have lower overall rates of survival when compared to those with the autossomal recessive CGD.

• #127 Chronic Granulomatous Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/chronic-granulomatous-disease

  The long-term outlook for children with CGD varies, depending on the severity of the condition and how the disease is managed. While frequent infections and periods of inflammation can shorten life expectancy, recent advances in treatment and therapies are improving both the quality and quantity of affected individuals’ lives.

• #128 Chronic Granulomatous Disease – Baby Detect

  https://babydetect.com/en/chronic-granulomatous-disease-cyba-ncf1-ncf2-ncf4-and-cybb-genes/

  CGD is a lifelong condition that requires lifetime management and regular follow-up with an immunology specialist and a multidisciplinary approach to care, including pediatrics and genetics. […] Aggressive approach to infections and antifungal and antibacterial prophylaxis has increasingly improved survival in CGD, and is now approximately 90% at age ten years. Patients with X-linked CGD tend to have lower overall rates of survival when compared to those with the autossomal recessive CGD.

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