Materiały źródłowe

• #1 Prevention of Infectious Complications in Patients With Chronic Granulomatous Disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5946879/

  Chronic granulomatous disease (CGD) is a primary immunodeficiency that confers a markedly increased risk of bacterial and fungal infections caused by certain opportunistic pathogens. Current evidence supports the use of prophylactic antibacterial, antifungal, and immunomodulatory therapies designed to prevent serious or life-threatening infections in patients with CGD. […] Therefore, the prevention of infectious complications in patients with CGD involves targeted prophylaxis against these organisms. Optimal avoidance of infection in patients with CGD involves a combination strategy that typically involves prophylactic antibacterial agents, antifungal agents, and immunomodulation via interferon-gamma (IFN-) therapy. […] Prophylaxis with TMP-SMX is effective in preventing infectious complications in patients with either X-linked or autosomal recessive (AR) CGD. Prophylaxis decreased the incidence of bacterial infections by 66% (from 7.1 to 2.4 per 100 patient-months) in patients with AR CGD and 56% (from 15.8 to 6.9 infections per 100 patient-months) in patients with X-linked CGD.

• #2 Chronic granulomatous disease: Treatment and prognosis – UpToDate

  https://www.uptodate.com/contents/chronic-granulomatous-disease-treatment-and-prognosis

  Chronic granulomatous disease (CGD) is a genetically heterogeneous condition characterized by recurrent, life-threatening bacterial and fungal infections and granuloma formation. The cornerstones of CGD management are antimicrobial and immunomodulatory prophylaxis, early diagnosis and aggressive management of infectious complications, careful management of inflammatory complications, and consideration for hematopoietic stem cell repair or replacement. […] The reduction in mortality and morbidity seen over the past few decades is largely attributable to antimicrobial prophylaxis and rapid recognition and treatment of infections in these patients. […] The cornerstones of CGD management are.

• #3 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

  All individuals with CGD should be on antibiotics for the prevention (prophylaxis) of bacterial infection. The first line of therapy is usually trimethoprim/sulfamethoxazole, also known as cotrimoxazole and septra. […] To reduce the frequency of fungal infections, many patients with CGD take itraconazole or other antifungal medications. Daily doses of the oral antifungal drug itraconazole can reduce fungal infections in CGD. […] Maximum infection prophylaxis for CGD involves treatment with twice-daily oral doses of cotrimoxazole and twice-daily itraconazole, voriconazole, or posaconazole, plus three times weekly injections of interferon-gamma. With these prophylactic treatments, the average incidence of severe infections in CGD is less than once every four years. […] All individuals with CGD should be on antibiotics for the prevention (prophylaxis) of bacterial infection. The first line of therapy is usually trimethoprim/sulfamethoxazole, also known as cotrimoxazole and septra. In addition, itraconazole, voriconazole, or posaconazole should be used for the prevention of fungal infections.

• #4 Pediatric Chronic Granulomatous Disease Treatment & Management: Medical Care, Surgical Care, Complications

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

  Antimicrobial prophylaxis, early and aggressive treatment of infections, and interferon-gamma are the cornerstones of current therapy for chronic granulomatous disease (CGD). […] Daily prophylaxis of bacterial infections with trimethoprim-sulfamethoxazole (TMP-SMZ; Bactrim) is indicated in CGD. TMP-SMZ prophylaxis reduces the incidence of bacterial infections in CGD without increasing the incidence of fungal infections. […] Interferon-gamma is now recommended as life-long therapy for infection prophylaxis in CGD.

• #5 Review paper Chronic granulomatous disease – primary phagocytic immunodeficiency

  https://www.termedia.pl/Review-paper-Chronic-granulomatous-disease-8211-primary-phagocytic-immunodeficiency,10,13193,1,1.html

  Most patients before the diagnosis are treated only symptomatically. Several studies have shown that continuous (long-term) antimicrobials and antifungal prophylaxis is effective in preventing recurrent inflammation, reduced number of complications, and have influence on improve the prognosis of this disease. The fundamental medicine applied in prophylaxis of CGD is trimethoprim-sulfamethoxazole (TMP-SMZ). The data show that long-term oral treatment with TMP-SMZ, decrease the incidence of nonfungal infections without increasing the incidence of fungal infections both with autosomal CGD and in X-linked CGD patient. Daily oral prophylaxis with TMP-SMZ (adult dose based on: TMP 5 mg/kg body weight per day, SMZ 18-30 mg/kg body weight per day in 2 divided doses; pediatric dose administered as in adults) is recommended. TMP-SMZ has a broad spectrum of microbicidal activity (by inhibiting synthesis of dihydrofolic acid which leads to the failure of bacterial growth) and a high selective concentration within phagocytes. Another standard treatment for the prevention of infection in CGD approved by the Food and Drug Administration (FDA) is human recombinant interferon-gamma (rIFN-gamma) as „biologic response modifier”. rIFN-gamma improves bactericidal activity in neutrophils and monocytes e.g. stimulates nonoxidative bactericidal pathways. Similarly as TMP-SMZ, an increased production of NO from neutrophils was found in patients receiving interferon-gamma. Treatment with rIFN may be associated with increases side effects as flu-like illness, fever and diarrhea. But data show that in most cases it is well-tolerated treatment, reduces the frequency of serious infections and is safe for a long-term (even a few years) prophylaxis therapy (50 mcg/m2/dose received subcutaneously 3 times per week).

• #6 Immunodeficiency Search

  https://www.immunodeficiencysearch.com/chronic-granulomatous-disease

  8. Bactrim and Itraconazole daily prophylaxis and prompt aggressive treatment of infections have been keys to prolonging the lives of patients. […] A. PROPHYLAXIS: The following lifelong prophylactic regimens should be started for all patients: […] 1. Trimethoprim-sulfamethoxazole (TMP-SMX) 5mg/kg/day (based on TMP component) up to a maximum of 320mg. […] 2. Itraconazole 5mg/kg once daily (maximum 200mg) […] 3. Interferon gamma (50mcg/m2 subcutaneously 3 times weekly) has demonstrated a reduction in the number of infections in a number of studies. […] Recent data indicate that patients with chronic granulomatous disease and modest residual production of ROI have significantly less severe illness and a greater likelihood of long-term survival than patients with little residual ROI production. Thus, early HSCT may be a consideration for patients with no ROI production.

• #7 TMP-SMX PROPHYLAXIS IN CHRONIC GRANULOMATOUS DISEASE.logo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b

  https://www.jwatch.org/jw199009140000007/1990/09/14/tmp-smx-prophylaxis-chronic-granulomatous

  TMP-SMX PROPHYLAXIS IN CHRONIC GRANULOMATOUS DISEASE. […] An apparent recent increase in severe and unusual fungal infections among patients with chronic granulomatous disease (CGD) who were receiving trimethoprin- sulfamethoxazole (TMP-SMX) as antibacterial prophylaxis prompted a reexamination of this heretofore accepted practice. […] Thus, these results support the use of prophylactic TMP- SMX for patients with both forms of CGD. Moreover, this study shows that treated patients are not at increased risk of fungal infections.

• #8 Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment

  https://www.mdpi.com/2076-2607/11/9/2233

  Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by a defect in the phagocytic function of the innate immune system owing to mutations in genes encoding the five subunits of the nicotinamide adenine dinucleotide phosphatase (NADPH) oxidase enzyme complex. […] Antibacterial prophylaxis with trimethoprim-sulfamethoxazole, antifungal prophylaxis usually with itraconazole, and interferon gamma immunotherapy have been successfully used in reducing infection in CGD. […] Antimicrobial and antifungal prophylaxis are the most common management routes used to minimize the incidence of infections. […] Drugs such as trimethoprim-sulfamethoxazole reduce the occurrence of bacterial infections in patients with CGD but do not interfere considerably with the gut microbiome. […] Itraconazole considerably reduces invasive fungal infections, and newer azole drugs, such as voriconazole, posaconazole, and isavuconazole, are available, providing more options for treating these fungal infections.

• #9 Prevention of Infectious Complications in Patients With Chronic Granulomatous Disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5946879/

  The results of 2 relatively small case series suggested that antifungal prophylaxis reduces the incidence of fungal infections in patients with CGD. […] Overall, any antifungal prophylaxis conferred a lower incidence of invasive fungal disease than previously reported (0.04 vs 0.1 invasive fungal diseases per patient-year, respectively). […] The final component of a standard prophylactic regimen for patients with CGD, in addition to antibacterial and antifungal agents, is the use of IFN- for immunomodulation. […] A randomized double-blind placebo-controlled study was conducted in the early 1990s to determine the efficacy of IFN- in patients with CGD. […] These data clearly support the use of IFN- therapy in the prevention of severe infections in patients with CGD. […] In general, many experts consider the risk/benefit ratio to be favorable for the use of IFN- to prevent invasive infectious complications in patients with CGD, particularly for young patients with X-linked disease and those with a history of invasive infections.

• #10

  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. […] The implementation of routine antimicrobial prophylaxis and the advent of azole antifungals has considerably improved overall survival. […] Lifelong prophylaxis with trimethroprim-sulfamethoxazole (5 mg/kg/d div BID up to 320 mg trimethoprim a day) and itraconazole (5 mg/kg/d up to 200 mg daily) is recommended. […] The prophylactic use of IFN- remains variable. […] A large randomized, double-blind, placebo-controlled study of 128 patients with CGD showed a clear benefit of IFN- prophylaxis with a decrease in both the number and severity of infections (14/63 patients assigned to IFN- developed serious infections during the study period versus 30/65 patients assigned to placebo) regardless of inheritance pattern, sex, or use of antibiotic prophylaxis.

• #11 Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment

  https://www.mdpi.com/2076-2607/11/9/2233

  Itraconazole should be provided as a long-term and possible lifelong treatment option to prevent fungal infections in children with CGD. […] Treatment using TNF-alpha inhibitors in patients with CGD could help improve the outcome of severe inflammatory complications despite the associated risk factors. […] The current management of patients with CGD involves a comprehensive multidisciplinary approach and its potential complications.

• #12 Aspergillosis in Chronic Granulomatous Disease

  https://www.mdpi.com/2309-608X/2/2/15

  Patients with chronic granulomatous disease (CGD) have the highest life-time incidence of invasive aspergillosis and despite the availability of antifungal prophylaxis, infections by Aspergillus species remain the single most common infectious cause of death in CGD. […] Prevention of IA plays a central role in the clinical management of CGD patients and consists of reducing environmental exposure to moulds and the prophylactic use of antifungals. Exposure to mulch, hay, wood chips and rotting plants (compost heaps), visiting caves, stables, sheds and areas of construction and/or renovation, and activities such as gardening should be avoided. […] The use of itraconazole prophylaxis has been shown to significantly reduce invasive fungal functions in CGD patients. […] The use of prophylactic recombinant human interferon-γ (IFN-γ) has shown to decrease the risk of severe infections (including fungal infections) in CGD by 70%. However, controversy remains about its use in routine prophylaxis.

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

  https://www.actimmunehcp.com/chronic-granulomatous-disease/actimmune-for-cgd/why-actimmune

  ACTIMMUNE: An immunomodulatory therapy that helps reduce the frequency and severity of serious infections in patients with CGD. […] Help lower the risk of serious infections in your patients with CGD […] As part of a combination treatment regimen along with prophylaxis therapy that includes antibiotics and antifungals, interferon gamma therapy, such as ACTIMMUNE, is recommended by the American Academy of Allergy, Asthma Immunology (AAAAI) and The American College of Allergy, Asthma Immunology (ACAAI). […] ACTIMMUNE (Interferon gamma-1b) is indicated: For reducing the frequency and severity of serious infections associated with chronic granulomatous disease.

• #14

  https://www.healio.com/news/pediatrics/20190910/qa-raising-awareness-of-chronic-granulomatous-disease

  The cornerstone of long-term management of CGD includes antibiotic and antifungal prophylaxis taken daily to prevent infections, usually with trimethoprim/sulfamethoxazole and itraconazole. […] The introduction of antimicrobial prophylaxis significantly reduced the rates of serious infections and mortality in CGD. […] Prophylaxis treatment including interferon gamma subcutaneous injections helps to boost macrophage activity and reduces the rates of serious infection about 70%. […] Prophylactic antibiotics, antifungals and interferon gamma reduce infections and increase healthy periods for patients and are important for reducing hospitalizations for infections and the need for intravenous antibiotics.

• #15 Chronic Granulomatous Disease – Immunodeficiency Disorders – Pathology for Medicine

  https://www.picmonic.com/pathways/medicine/courses/standard/pathology-196/immunodeficiency-disorders-39339/chronic-granulomatous-disease_5059

  Chronic Granulomatous Disease (CGD) is an X-linked recessive disorder (some forms are autosomal recessive) that results in defective NADPH oxidase. […] Treatment consists of antimicrobial prophylaxis with TMP- SMX and itraconazole. […] Patients with Chronic Granulomatous Disease (CGD) are treated with antimicrobial prophylaxis to protect against bacterial and fungal infections. The most common therapies in the United States include Trimethoprim- sulfamethoxazole (TMP- SMX) and Itraconazole with or without interferon- gamma (INF- gamma). […] Trimethoprim- sulfamethoxazole (TMP- SMX) is used as prophylaxis against bacterial infections. […] Itraconazole is used as prophylaxis against fungal infections. […] Immune modulatory therapy has become part of the prophylactic and treatment regimen, especially in severe cases of CGD. Studies have shown this drug can reduce infections by 70% and decrease their severity.

• #16 Chronic Granulomatous Disease – CGD Association of America

  https://cgdaa.org/managing-cgd

  Avoiding infection in patients with CGD involves a combination strategy that typically includes prophylactic antibacterial agents, antifungal agents, and immunomodulation via interferon-gamma (IFN-) therapy (CGD prophylaxis) and avoidance of exposure to bacteria and fungi. […] People with CGD should avoid dirt, construction areas, caves, grass cuttings, decaying leaves, dust, garden mulch, fresh water (lakes, ponds, rivers), jacuzzis/hot tubs, and potting soil. […] Antifungal medications are another component of managing CGD. Antifungal medication, such as itraconazole, is used to prevent and reduce the amount of fungal infections. […] Interferon gamma injections, such as Actimmune, can be prescribed for Chronic Granulomatous Disease management as a way to lower the frequency and severity of serious infections. […] Bacteria and fungi exposures are prevalent in daily life but there are measures one can take to avoid exposure and reduce risk. […] People with CGD should avoid dirt, grass cuttings, decaying leaves, garden mulch, and potting soil.

• #17 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

  Interferon-gamma is an injectable pro-inflammatory molecule that can be used together with antibacterial and antifungal prophylaxis to reduce infection. […] Fungal and bacterial exposures are prevalent in everyday life, but there are some precautions that can be taken to avoid exposures and reduce infection risk. […] Children with CGD should receive routine vaccinations as recommended by the American Academy of Pediatrics, including live virus vaccines. Patients with CGD do not have any defect in immunity to viruses, so they are able to receive live virus vaccines without adverse effects.

• #18 Chronic Granulomatous Disease: Symptoms & Treatment

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

  You cant prevent CGD. People with a family history of the disease who want to have children should seek genetic counseling to learn about the risk of having a child with CGD. […] Reducing your risk of infection by taking the following precautions can also help: Avoid swimming in freshwater or saltwater and stick to chlorinated pools only. Bacteria and organisms are found more freely in non-chlorinated water. Avoid garden mulch and dry leaves, which can cause a life-threatening form of pneumonia. Things like compost piles and hay can also contain bacteria or fungi that are dangerous to people with CGD.

• #19 Management of Chronic Granulomatous Disease Treatment – For HCPs

  https://www.cgdpathways.com/chronic-granulomatous-disease-management

  Prevention of serious infections is vital for patients with CGD. […] CGD treatment guidelines recommend combination immunomodulatory and prophylaxis therapy. […] Share these recommendations with your patients to help them avoid infections: Refrain from engaging in activities involving leaf raking or being close to such activities. Avoid entering barns, caves, basements, and other locations characterized by damp, musty conditions. Don’t participate in hay rides to minimize exposure to potential allergens and microorganisms. Ensure all abrasions and lacerations are promptly and thoroughly cleansed with soap and water to prevent infection. Consult with a medical professional regarding any wounds or the onset of fever to ensure appropriate care and intervention. Abstain from smoking and avoid exposure to smoke to maintain lung health.

• #20 Chronic Granulomatous Disease: A Comprehensive Guide

  https://www.rupahealth.com/post/chronic-granulomatous-disease-a-comprehensive-guide

  Since CGD is a genetic disorder, it cannot be prevented. However, steps can be taken to reduce the risk of infections and complications: […] People with a family history of CGD who plan to have children may consider genetic counseling to understand the risk. […] Avoid freshwater and saltwater swimming; chlorinated pools are safer. […] Stay away from garden mulch, compost, and dry leaves, which may contain harmful bacteria and fungi. […] Maintain good hygiene and regular handwashing to minimize exposure to germs. […] Take lifelong antibiotic and antifungal medications as prescribed to help prevent infections.

• #21 Chronic granulomatous disease: MedlinePlus Medical EncyclopediaLock

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

  Genetic counseling is recommended if you are planning to have children and you have a family history of this disease. […] Advances in genetic screening and the increasing use of chorionic villus sampling (a test that may be done during a woman’s 10th to 12th week of pregnancy) have made early detection of CGD possible.

• #22 HIE Multimedia – Chronic granulomatous disease

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&pid=1&gid=001239

  Genetic counseling is recommended if you are planning to have children and you have a family history of this disease. Advances in genetic screening and the increasing use of chorionic villus sampling (a test that may be done during a woman’s 10th to 12th week of pregnancy) have made early detection of CGD possible. […] Chorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.

• #23 New onset colitis in an adult patient with chronic granulomatous disease treated with hematopoietic stem cell transplantation: a diagnostic dilemma | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-018-0243-z

  Chronic granulomatous disease (CGD) is a rare primary immunodeficiency characterized by recurrent life-threatening bacterial and fungal infections, granuloma formation and intestinal disease. […] Treatment options for patients with CGD are often limited to infection prophylaxis with trimethoprim-sulfamethoxazole (Septra) for bacterial infection, itraconazole for fungal infections and immunomodulation with interferon gamma to alleviate the persistently pro-inflammatory state. […] However, hematopoietic stem cell transplantation (HSCT) remains the only established curative therapy for CGD, and this has become the standard of care in the pediatric population. […] A broad differential diagnosis is required for colitis presenting after HSCT in a patient with pre-existing CGD. […] We have been able to rule out common etiologies such as recurrent CGD, typical GvHD, and viral colitis, but we have yet to exclude another Crohns-like colitis, an atypical presentation of GvHD or other unknown viral etiology from our differential diagnosis, however the current plan for this patients colitis involves future elective total colectomy for disease control, with observation for disease recurrence.

• #24 Mold infections in chronic granulomatous disease patients—what comes to the rescue? | Bone Marrow Transplantation

  https://www.nature.com/articles/s41409-024-02342-y

  In CGD transplantation, deaths are usually transplantation-associated (mainly graft failure, graft versus host disease (GVHD), and secondary autoimmunity) and not due to underlying infections. […] The current study by Kline et al. adds to the encouraging reports of curative CT of CGD in adolescents and adults. In CGD chronic fungal infections are an indication to proceed to CT.

• #25 Chronic Granulomatous Disease: The European Experience | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0005234

  A curative therapy for CGD is stem-cell transplantation. However, this treatment has a considerable risk of transplantation-related morbidity and mortality, especially in patients with severely compromised pulmonary function or other debilitating illnesses. In this cohort, 24 patients (6%) had been treated with stem-cell transplantation, of whom 5 had died at the time of inclusion. No patients in this cohort had at the time of inclusion been treated with gene therapy. This treatment had a promising, though transient, clinical effect in some selected patients, but insertional mutagenesis also bears new risks.

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

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

  Antibiotic and antifungal prophylaxis and early treatment of infections are imperative. […] Hematopoietic stem cell transplantation should be undertaken early if human leukocyte antigen (HLA) genotypically matched donors are available. […] Somatic gene therapy is effective at least transiently for restoration of NADPH oxidase activity.

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

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

  Antibiotic and antifungal prophylaxis and early treatment of infections are imperative. […] Haematopoietic stem cell transplantation should be undertaken early if human leucocyte antigen (HLA) genotypically matched donors are available. […] Somatic gene therapy is effective at least transiently for restoration of NADPH oxidase activity.

• #28 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

  Prophylactic antibiotics and usually antifungals […] Treatment of chronic granulomatous disease is continuous prophylactic antibiotics, particularly sulfamethoxazole/trimethoprim 800/160 mg orally twice a day. Oral antifungals are given as primary prophylaxis or are added if fungal infections occur even once; most useful are itraconazole, voriconazole, and posaconazole. […] Interferon gamma may reduce severity and frequency of infections and is usually included in the treatment regimen. […] For severe infections, give granulocyte transfusions. […] Consider hematopoietic stem cell transplantation.

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