. DEFECTS OF ADAPTIVE IMMUNITY .

Agammaglobulinemia panel [10 genes]

Agammaglobulinemia refers to a small group of primary antibody deficiencies characterized by a severe reduction of all immunoglobulin classes due to the absence of peripheral B cells. There are at least 8 forms of agammaglobulinemia depending on which gene is defective. However, the common underlying pathological mechanism is a maturation failure of B lymphocyte precursors into differentiated B lymphocytes and, ultimately, plasma cells. Hence, immunoglobulins cannot be produced due to the lack of circulating mature B cells. X-linked agammaglobulinemia (XLA), caused by BTK mutations, explains most of the cases.

Clinical features

  • Bacterial infections
  • Agammaglobulinemia
  • Onset: neonatal, infancy, childhood

Prevalence

  • 1:1,000,000
  • 1:100,000 – 1:200,000 (XLA)

Service benefits and management

  • Differential diagnosis: CVID, SCID, HIGM, IgA def.
  • Genetic counselling
  • Ig replacement (IVIG)
  • Antibiotic prophylaxis
  • Avoid live vaccines

BLNK, BTK, CD79A, CD79B, IGHM*, IGKC*, IGLL1, LRRC8A, PIK3R1, TCF3

*These genes will be sequenced by a complementary technique

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