. DEFECTS OF ADAPTIVE IMMUNITY .

Common Variable Immunodeficiency (CVID) panel [25 genes]

Common variable immunodeficiency (CVID) is the most common symptomatic and frequently diagnosed primary immunodeficiency in adults. CVID is an umbrella term that encompasses various genetic disorders that share a common feature: hypogammaglobulinemia with normal or low B cell numbers. The pathophysiology of CVID is caused by a defective humoral and cell-mediated response due to B cell differentiation failure, no immunoglobulin production, defective T cell signalling, or an altered B cell-T cell interaction.

Clinical features

  • Bacterial infections (respiratory)
  • Hypogammaglobulinemia
  • Autoimmunity (25% cases)
  • Lymphoproliferation and risk of cancer
  • Onset: childhood (rare) and adulthood (20-40 years).

Prevalence

  • 1:10,000 – 1:50,000
  • 1:143-1:18,500 IgA deficiency

Service benefits and management

  • Differential diagnosis: agammaglobulinemia, SCID, cystic fibrosis, primary ciliary dyskinesia
  • Genetic counselling
  • Ig replacement (IVIG)
  • Antibiotic prophylaxis
  • Corticosteroids

ATP6AP1, CD19, CD81, CR2, CTLA4, CXCR4, ICOS, IKZF1, IL21, IRF2BP2, LRBA, MOGS, MS4A1, NFKB1, NFKB2, PIK3CD, PIK3R1, PLCG2, PTEN, SEC61A1, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1, TTC37

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