Describe Briefly the Signs and Symptoms of SCID
Severe Combined Immunodeficiency (SCID) is a group of rare genetic disorders characterized by profound defects in both humoral (B-cell) and cellular (T-cell) immunity. It is often termed as “bubble boy disease” due to the extreme measures required to protect affected individuals from infections.
Causes
- Mutations in genes such as IL2RG (X-linked SCID), ADA (adenosine deaminase deficiency), or others affecting immune cell development and function
- Inherited in an autosomal recessive or X-linked pattern
Signs and Symptoms
- Frequent, severe, and recurrent infections (respiratory, gastrointestinal, skin)
- Poor growth or failure to thrive
- Chronic diarrhea
- Oral thrush and persistent rashes
- Low lymphocyte counts on blood tests
- Lack of tonsils and lymph nodes
Diagnosis and Management
- Newborn screening for T-cell receptor excision circles (TRECs)
- Confirmatory tests: flow cytometry, genetic testing
- Treatment options: bone marrow transplantation, gene therapy, enzyme replacement (ADA-SCID)
Early diagnosis and treatment are critical, as SCID is fatal within the first year of life without medical intervention.