. DEFECTS OF ADAPTIVE IMMUNITY .
Combined immunodeficiencies (CID) are a group of rare and congenital disorders characterized by a critically compromised immune response (not as profound as that found in SCID), which is due to reduced T lymphocyte counts and/or function, with or without defective B lymphocyte function.
- Infections (viral, fungal, bacterial)
- Syndromic features
- Onset: infancy, childhood
- 1 : 75,000 – 1:100,000
Service benefits and management
- Differential diagnosis with SCID
- Genetic counselling
- Hematopoietic stem cell transplantation (HSCT)
- Gene therapy
- Avoid live vaccines
B2M, BCL10, BCL11B, CARD11, CARMIL2, CASP8, CD27, CD40, CD40LG, CD8A, CIITA, CTPS1, DOCK2, DOCK8, ICOS, IKBKB, IL21, IL21R, LAT, LCK, MAGT1, MALT1, MAP3K14, MSN, RELB, RFX5, RFXANK, RFXAP, RHOH, STK4, TAP1, TAP2, TAPBP, TFRC, TNFRSF4, UNC119, ZAP70