Materiały źródłowe

• #1 X-Linked Agammaglobulinemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549865/

  There is currently no cure for XLA; however, early management with immunoglobulin replacement therapy and antibiotics to prevent and treat infections. Although this lifelong avenue is costly, it has been the mainstay of treatment for the past fifty years. Any significant delay in diagnosis poses the danger of developing chronic, treatment-resistant infections, and end-organ damage that cannot be corrected.[9][3] […] The optimal management of patients with XLA includes: Regular immunoglobulin replacement therapy, using intravenous or subcutaneous infusions; Therapeutic and prophylactic use of antibiotics to treat and prevent bacterial infections; Careful monitoring to manage reactions arising from immunoglobulin infusions, complications of infections, or the emergence of clinical disease (e.g., autoimmune, inflammatory, malignant); Support (nutritional, social, psychological, and educational); Counseling about the importance of receiving all available immunizations except for those containing live bacteria or viruses, e.g., polio (OPV, oral polio vaccine), measles/mumps/rubella (MMR), chickenpox (Varivax), BCG, yellow fever, and rotavirus (Rota-Teq).

• #2 X-Linked Agammaglobulinemia | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/31430

  There is currently no cure for XLA; however, early management with immunoglobulin replacement therapy and antibiotics to prevent and treat infections. Although this lifelong avenue is costly, it has been the mainstay of treatment for the past fifty years. Any significant delay in diagnosis poses the danger of developing chronic, treatment-resistant infections, and end-organ damage that cannot be corrected.[9][3] […] The optimal management of patients with XLA includes: Regular immunoglobulin replacement therapy, using intravenous or subcutaneous infusions; Therapeutic and prophylactic use of antibiotics to treat and prevent bacterial infections; Careful monitoring to manage reactions arising from immunoglobulin infusions, complications of infections, or the emergence of clinical disease (e.g., autoimmune, inflammatory, malignant); Support (nutritional, social, psychological, and educational); Counseling about the importance of receiving all available immunizations except for those containing live bacteria or viruses, e.g., polio (OPV, oral polio vaccine), measles/mumps/rubella (MMR), chickenpox (Varivax), BCG, yellow fever, and rotavirus (Rota-Teq).[21][22][23][24][23][22]

• #3 X-Linked Agammaglobulinemia: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/24955-x-linked-agammaglobulinemia

  Can X-linked agammaglobulinemia be prevented? […] If you’re concerned about XLA, a healthcare provider can screen you for genetic conditions you could pass on to your child. If you’re a carrier of the mutation that causes XLA, you have a 50% chance of passing the mutation to a child. Any male children would have XLA. If you have XLA, your female children would be carriers. A genetic counselor or the provider who ordered the testing can advise you on your options if you’re a carrier or have XLA.

• #4 Orphanet: X-linked agammaglobulinemia

  https://www.orpha.net/en/disease/detail/47

  A diagnosis of XLA should be considered in patients with recurrent or persistent otitis media, pneumonia, sinusitis, and conjunctivitis starting before age five years or severe bacterial infections such as sepsis, meningitis, cellulitis, or empyema. […] Genetic counseling should be provided to members of affected families. […] There is no curative treatment for XLA but good disease control can be achieved through consistent gammaglobulin therapy. This can be given intravenously (400-600 mg/kg every 3 to 4 weeks) or subcutaneously (100 mg/kg every week). Therapy should be started as early as possible. Some immunologists advocate chronic prophylactic antibiotics and treatment of acute infections should be prolonged and at maximal doses of antibiotics.

• #5 X-linked Agammaglobulinemia: Causes, Symptoms, Treatment

  https://www.prepladder.com/neet-pg-study-material/pathology/x-linked-agammaglobulinemia-causes-symptoms-diagnosis-treatment-prevention-and-complications

  If you are concerned about XLA, a medical practitioner can run tests on you to check for genetic abnormalities that you might pass on to your offspring. If you are an AFAB woman or individual, you have a 50% chance of passing on the XLA-causing gene to your child, who would subsequently have the disorder. […] If you are an AMAB or a man with XLA, your daughters would be carriers as well. Should the tests indicate that you have XLA or are a carrier, you can talk to a genetic counselor or the physician who performed the tests about your options.

• #6 X-Linked Agammaglobulinemia in Children

  https://healthlibrary.tidelandshealth.org/library/diseasesconditions/adult/endocrinology/90,P01666

  Think about getting genetic testing and counseling if X-linked agammaglobulinemia runs in your family. A woman can get tested for the gene. If you are a known carrier, you can also have prenatal testing to find out if your child has inherited the gene. This testing might occur through an amniocentesis or chorionic villus sampling. […] Treatment may include replacing antibodies, treating and preventing infections, and not getting live virus vaccines. […] Keep in regular touch with your child’s healthcare provider, and tell your child’s school and other close contacts. This will help your child stay healthier.

• #7 X-Linked (Bruton) Agammaglobulinemia Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/1050956-treatment

  Families with a known mutated gene can be prenatally evaluated to better prepare for the infant’s care. Testing is performed via amniocentesis or chorionic villi sampling. After birth, testing is performed on cord blood. […] A BTK gene mutation screening study may be performed in families with the BTK gene defect to detect new cases. In one study from Taiwan, 52 members of 4 unrelated families with the BTK gene defect for BTK gene mutation detected 6 symptomatic living affected individuals and 11 asymptomatic female carriers.

• #8 X-linked Agammaglobulinemia | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/x-linked-agammaglobulinemia

  Antibody replacement. This is done through gamma globulin therapy, IVIG (given intravenously into the bloodstream). This treatment gives patients the antibodies that they cannot make themselves, in order to protect against infections and reduce the spread of infections. […] Prompt treatment of infections (or giving antibiotics prophylactically before an infection has occurred). […] Avoidance of live viral vaccinations (such as the one given for measles, mumps, rubella (MMR) and chickenpox (varicella), because your child could develop the disease for which the vaccine was given.

• #9 Early Subcutaneous Immunoglobulin for X-Linked Agammaglobulinemia

  http://clinmedjournals.org/articles/ijii/international-journal-of-immunology-and-immunotherapy-ijii-3-016.php?jid=ijii

  SCIG is a valuable choice for treating XLA patients, even from the very beginning. […] The interest of the case lies in the beginning of the replacement therapy directly with SCIG, without intravenous loading dose. Also, the clinical outcome was better with higher levels of IgG. […] In conclusion, IRT with SCIG since the very beginning of the treatment of XLA is safe. SCIG is an attractive option for managing patients requiring IRT.

• #10 X-linked agammaglobulinemia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/x-linked-agammaglobulinemia/diagnosis-treatment/drc-20361639

  There’s no cure for XLA. Treatment aims at boosting the immune system to prevent infections. […] Some people with XLA take antibiotics all the time to prevent infections. […] Your healthcare professional likely will suggest that you have follow-up visits every 6 to 12 months to screen for complications of XLA. You’ll also likely be told to not get live vaccines, such as live polio, measles-mumps-rubella or chickenpox vaccines. […] Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

• #11 X-linked agammaglobulinemia – Hancock Health

  https://www.hancockhealth.org/mayo-health-library/x-linked-agammaglobulinemia/

  Theres no cure for XLA. Treatment aims at boosting the immune system to prevent infections. […] Some people with XLA take antibiotics all the time to prevent infections. […] Your healthcare professional likely will suggest that you have follow-up visits every 6 to 12 months to screen for complications of XLA. You’ll also likely be told to not get live vaccines, such as live polio, measles-mumps-rubella or chickenpox vaccines.

• #12 X-Linked Agammaglobulinemia

  https://www.aaaai.org/conditions-treatments/primary-immunodeficiency-disease/x-linked-agammaglobulinemia

  There is no cure for XLA, but the condition can be successfully treated. Immunoglobulin replacement therapy is a life-long and life-saving treatment that restores some of the missing antibodies. […] In addition, some people benefit from a daily course of oral antibiotics to prevent or treat infections. […] Live viral vaccines, such as those for polio, measles, mumps or rubella, are not considered safe for people with XLA. Though rare, these vaccines can infect the recipient with the very disease they were intended to prevent. This is true for most B and T cell immune defects.

• #13 X-Linked Agammaglobulinemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/20301626/

  The mainstay of treatment is gammaglobulin substitution therapy (by weekly subcutaneous injection or intravenous infusion every two to four weeks) to prevent bacterial infections. […] Prophylactic antibiotics can be considered to prevent infections. Vaccines, apart from live vaccines, are recommended to prevent infection. Inactivated polio vaccine (as opposed to live oral polio vaccine) should be given to affected individuals and their family contacts. […] Molecular genetic testing of at-risk male relatives as soon after birth as possible ensures that gammaglobulin substitution therapy is initiated as soon as possible in affected individuals and administration of live viral vaccines can be avoided.

• #14 X-Linked Agammaglobulinemia – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/x-linked-agammaglobulinemia/?utm_source=pubmedlink&utm_campaign=MDS&utm_content=31430

  Patients and their families should be given resources and learning materials that explain various medical practices like vaccinations, the replacement of immunoglobulins (proteins that the immune system makes to attack viruses and bacteria), the use of antibiotics to prevent or treat infections, regular and urgent medical care, the importance of attending follow-up doctor appointments, teams of healthcare professionals, how to prepare for travel, why its important to keep records, getting support, and how to strongly stand up for your own health rights. […] Its equally important to thoroughly discuss the reasons why patients should avoid live virus vaccines, which are types of vaccines that use a weakened form of a virus or bacteria to stimulate your immune system. These include vaccines for diseases like polio, mumps, measles, rubella, rotavirus, yellow fever, and chickenpox.

• #15 X-linked-agammaglobulinaemia

  https://dermnetnz.org/topics/x-linked-agammaglobulinaemia

  There is no cure for X-linked agammaglobulinaemia. However, treatment can greatly improve quality of life for X-linked agammaglobulinaemia patients. […] Antibioticssometimes used prophylactically to reduce infection rates. […] Avoid live vaccinesincluding measles, mumps, and rubella (MMR) vaccine, and the vaccines for polio, rotavirus, and varicella, which can cause the diseases they are supposed to prevent.

• #16 X-Linked Agammaglobulinemia in Children

  https://myhealth.umassmemorial.org/YourFamily/Children/90,P01666

  Think about getting genetic testing and counseling if X-linked agammaglobulinemia runs in your family. A woman can get tested for the gene. If you are a known carrier, you can also have prenatal testing to find out if your child has inherited the gene. This testing might occur through an amniocentesis or chorionic villus sampling. […] Practice good infection prevention habits, such as handwashing and keeping your child away from others with infections. […] Keep in regular touch with your child’s healthcare provider, and tell your child’s school and other close contacts. This will help your child stay healthier.

• #17 X-Linked Agammaglobulinemia in Children

  https://healthlibrary.overlakehospital.org/library/wellness/diseasesconditions/90,P01666

  Think about getting genetic testing and counseling if X-linked agammaglobulinemia runs in your family. A woman can get tested for the gene. If you are a known carrier, you can also have prenatal testing to find out if your child has inherited the gene. This testing might occur through an amniocentesis or chorionic villus sampling. […] Treatment may include replacing antibodies, treating and preventing infections, and not getting live virus vaccines. […] Practice good infection prevention habits, such as handwashing and keeping your child away from others with infections. […] Keep in regular touch with your child’s healthcare provider, and tell your child’s school and other close contacts. This will help your child stay healthier.

• #18 X-Linked Agammaglobulinemia in Children

  http://library.covenanthealth.com/HeartHealth/90,P01666

  Think about getting genetic testing and counseling if X-linked agammaglobulinemia runs in your family. A woman can get tested for the gene. If you are a known carrier, you can also have prenatal testing to find out if your child has inherited the gene. This testing might occur through an amniocentesis or chorionic villus sampling. […] Keep in regular touch with your child’s healthcare provider, and tell your child’s school and other close contacts. This will help your child stay healthier.

• #19 X-Linked Agammaglobulinemia – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/x-linked-agammaglobulinemia/?utm_source=pubmedlink&utm_campaign=MDS&utm_content=31430

  When planning a trip, patients and families are advised to: Bring along a portable water filtration system, preventive antibiotics, and other medications. Familiarize themselves with the required vaccinations for traveling to foreign countries and be prepared to comply or get formal exceptions when necessary. Be equipped with a list of useful resources, including the locations, contact information, and hours of operation for medical facilities like infusion centers (for patients receiving immunoglobulin replacement therapy), doctors, and pharmacists (to get antibiotics needed to treat new infections), hospitals, medical specialists, emergency centers, therapists, and various support staff. […] Keeping records of all aspects of patient care, care management, and follow-up details is encouraged. This list should include handy contacts and resources that may be of use to the patient.

• #20 X-Linked Agammaglobulinemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549865/

  Patients and their families should be provided resources and educational materials informing them about vaccines, immunoglobulin replacement therapy, prophylactic and therapeutic use of antibiotics, routine and emergency medical care, the importance of keeping follow-up appointments, healthcare team specialists, preparation for traveling, the importance of record-keeping, support, and how to become a good patient advocate. […] Reasons for avoiding live virus vaccines, such as oral polio, mumps, measles, rubella, rotavirus, yellow fever, chickenpox, should be explained thoroughly.

• #21 X-Linked Agammaglobulinemia | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/31430

  Patients and their families should be provided resources and educational materials informing them about vaccines, immunoglobulin replacement therapy, prophylactic and therapeutic use of antibiotics, routine and emergency medical care, the importance of keeping follow-up appointments, healthcare team specialists, preparation for traveling, the importance of record-keeping, support, and how to become a good patient advocate. […] Reasons for avoiding live virus vaccines, such as oral polio, mumps, measles, rubella, rotavirus, yellow fever, chickenpox, should be explained thoroughly.

• #22

  https://link.springer.com/article/10.1007/s12016-021-08870-5

  Interruptions or alterations in the B cell development pathway can lead to primary B cell immunodeficiency with resultant absence or diminished immunoglobulin production. […] Early recognition and diagnosis of these conditions are pivotal for improved outcomes and prevention of sequelae and complications. […] Some diagnostic innovations, such as KREC level measurements and serum BCMA measurements, may aid in facilitating an earlier identification of agammaglobulinemia leading to prompt treatment. Earlier diagnosis may improve the overall health of patients with XLA.

• #23 :: PIV :: Pediatric Infection and Vaccine

  https://piv.or.kr/DOIx.php?id=10.14776/piv.2017.24.3.152

  In patients less than 4 years of age with recurrent infection, analysis of serum gamma globulin levels and the Btk gene are recommended for the early diagnosis of XLA and for the appropriate prevention of recurrent infection. […] The aim of this study was to investigate the clinical manifestations, molecular features, and treatment status of XLA in Korean patients at Seoul National University Children’s Hospital.

• #24 Cited

  https://www.koreamed.org/SearchBasic.php?RID=2401390

  In patients less than 4 years of age with recurrent infection, analysis of serum gamma globulin levels and the Btk gene are recommended for the early diagnosis of XLA and for the appropriate prevention of recurrent infection.

• #25 X-Linked Agammaglobulinemia – Immune Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/immune-disorders/immunodeficiency-disorders/x-linked-agammaglobulinemia

  Immune globulin is given throughout life to provide the missing antibodies and thus help prevent infections. […] Antibiotics are promptly given to treat bacterial infections and may be given continuously. […] Prenatal genetic screening is recommended for people if a mutation that causes X-linked agammaglobulinemia has been identified in their family. […] People with X-linked agammaglobulinemia are not given vaccines that contain live but weakened organisms (viruses or bacteria).

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