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immunodeficiency with hyper-IgM type 5

MIM.608106 12q23-q24.1

Wednesday 26 January 2011

HIGM5 is caused by mutation in the gene encoding uracil-DNA glycosylase (UNG; MIM.191525). HIGM5 is inherited as an autosomal recessive disease.

Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.

See also

- immunodeficiencies

  • constitutional immunodeficiencies (genetic immunodeficiencies)

- immunodeficiency with hyper-IgM

  • immunodeficiency with hyper-IgM type 1 / HIGM1 (MIM.308230) at Xq26
  • immunodeficiency with hyper-IgM type 2 / HIGM2 (MIM.605258) at 12p13
  • immunodeficiency with hyper-IgM type 3 / HIGM3 (MIM.606843) at 20q12-q13.2
  • immunodeficiency with hyper-IgM type 4 / HIGM4 (MIM.608184)
  • immunodeficiency with hyper-IgM type 5 / HIGM5 (MIM.608106) at 12q23-q24.1