Severe Combined Immunodeficiency
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Severe combined immunodeficiency (SCID) is a primary immunodeficiency characterized by functional defects in both the humoral and cellular immune systems. Most babies present with lymphopenia. Even the suspicion of SCID constitutes a pediatric emergency. Untreated, SCID is universally fatal, usually within the 1st year of life.
Most patients present in the 1st year of life as immunity from maternal antibody wanes.
- Estimated to be 1 in 100,000 births but may be underreported because of early infant mortality
- Highest in regions where consanguineous marriages take place
- SCID due to Artemis defects occurs in 1 in 2,500 births in the Navajo and Apache populations because of a founder mutation.
- At least 13 known genetic defects that cause SCID
- Approximately 50% of cases are X-linked (mutation in the IL2 gamma chain); the others are autosomal recessive or de novo mutations.
- Classified by the lymphocytes subsets affected (e.g., T− B+ NK+, T− B− NK+, etc.)
Caused by mutations in genes required for T-cell growth and development, purine salvage pathway function (e.g., adenosine deaminase), and expression of histocompatibility (HLA) antigens.