. DEFECTS OF ADAPTIVE IMMUNITY .

Combined Immunodeficiencies (CID) panel [37 genes]

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.

Clinical features

  • Infections (viral, fungal, bacterial)
  • Autoimmunity
  • Autoinflammation
  • Syndromic features
  • Onset: infancy, childhood

Prevalence

  • 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

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