Hyper-IgM syndrome type 5

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Classification according to ICD-10
D80.5 Immunodeficiency with increased immunoglobulin M [IgM]
ICD-10 online (WHO version 2019)

The Hyper-IgM syndrome, type 5 ( HIGM5 ) is a special form of the rare hyper-IgM syndrome , a hereditary disease with increased immunoglobulin M and simultaneously reduced to the absence of immunoglobulin G and immunoglobulin A in the blood serum .

Synonyms are: Hyper-IgM syndrome due to UNG deficiency; Hyper-IgM syndrome due to uracil-N-glycosylase deficiency

distribution

The frequency is not known, the inheritance is done autosomal - recessive .

root cause

The disease is based on mutations in the UNG gene at gene location 12q24.11, which codes for uracil DNA glycosylase .

Clinical manifestations

The disease belongs to the forms without increased infections , i.e. no increased tendency to infection due to the immunodeficiency .

Individual evidence

  1. ↑ a b Hyper-IgM syndrome type 5. In: Orphanet (database for rare diseases).
  2. ^ Immunodeficiency with hyper IgM, type 5.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ Hyper-IgM syndrome without opportunistic infections. In: Orphanet (Rare Disease Database).