In this online, self-learning activity: Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is a rare genetic disorder caused by mutations in the adenosine deaminase (ADA) gene. ADA-SCID is a specific form of severe combined immunodeficiency that results from ADA deficiency. Mutations in the ADA gene result in an accumulation of deoxyadenosine which leads to the destruction of lymphocytes, affecting the integrity of the immune system. This disease leaves individuals highly susceptible to infection such as pneumonia, chronic diarrhea, and oral thrush, which typically manifests soon after birth. The median age at diagnosis is between 1-3 months of age, although there is variability with some individuals having a later presentation onset. ADA deficiency accounts for approximately 10-15% of all SCID cases with an overall prevalence of 1 in 500,000 live births. It remains a rare disease and requires specialized immunologists, novel gene therapies, and transplant physicians to create a wholistic care plan.
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- Adolescent Medicine
- Cardiovascular Disease
- Endocrinology, Diabetes & Metabolism
- Gastroenterology
- General Internal Medicine
- General Pediatrics
- Hematology
- Medical Oncology
- Neonatal-Perinatal Medicine
- Nephrology
- Neurocritical Care
- Neurology
- Ophthalmology
- Pediatric Gastroenterology
- Pediatric Hematology-Oncology
- Pediatric Infectious Diseases
- Pediatric Neurology
- Pediatric Radiology
- Pediatric Transplant Hepatology
- Pulmonary Disease
- Rheumatology
- Transplant Hepatology
- Cardio-Vascular
- Cross-Specialty
- Emergency & Critical Care
- GI & Liver
- Infectious Disease
- Internal Medicine
- Medical Subspecialties
- Neurology
- Oncology & Hematology
- Pediatrics
- Primary care
- Radiology
- Surgery
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ReleasedFeb 1, 2025
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Last day to claim creditFeb 2, 2027 4 months left
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