. DEFECTS OF ADAPTIVE IMMUNITY .

Hyper-IgM Syndrome (HIGM) panel [8 genes]

Hyper-IgM syndrome (HIGM) is a type of primary antibody deficiency characterized by the inability of B cells to switch from being IgM producing cells to being IgG, IgA, or IgE producing cells (class switch recombination deficiency). As a result, patients have decreased levels of immunoglobulin G (IgG) or IgA and normal to elevated levels of IgM in blood. Most of reported HIGM cases (70%) are caused by mutations in CD40LG, whereas the remaining 30% are caused by any of the other genes.

Clinical features

  • Chronic bacterial Infections
  • Elevated IgM in serum
  • Lymphoid hyperplasia
  • Autoimmunity
  • Onset: infancy and childhood, mostly boys

Prevalence

  • 1:500,000
  • 1:1,000,000 (AICDA deficiency)
  • 70% (CD40LG)

Service benefits and management

  • Differential diagnosis: CVID, agammaglobulinemia, CID
  • Genetic counselling
  • Ig replacement (IVIG)
  • Antibiotic prophylaxis
  • Avoid corticoids and live vaccines

AICDA, CD40, CD40LG, INO80, MSH6, PIK3R1, PMS2, UNG

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