Hyper-IgM syndrome type 2
Classification according to ICD-10 | |
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D80.5 | Immunodeficiency with increased immunoglobulin M [IgM] |
ICD-10 online (WHO version 2019) |
The Hyper-IgM syndrome type 2 ( HIGM2 ) 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: AID deficiency; Activation-induced cytidine deaminase deficiency
distribution
The frequency is not known, the inheritance is done autosomal - recessive .
root cause
The disease is based on mutations in the AICDA gene at locus 12p13.31, which codes for the protein CD154, which is found on T lymphocytes .
Clinical manifestations
The disease belongs to the forms without increased infections , i.e. no increased tendency to infection due to the immunodeficiency .
literature
- N. Caratão, CS Cortesão, PH Reis, RF Freitas, CM Jacob, AC Pastorino, M. Carneiro-Sampaio, VM Barreto: A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome. In: Clinical immunology (Orlando, Fla.). Vol. 148, No. 2, August 2013, pp. 279–286, doi: 10.1016 / j.clim.2013.05.017 , PMID 23803409 .
Individual evidence
- ↑ a b Hyper-IgM syndrome type 2. In: Orphanet (database for rare diseases).
- ↑ Immunodeficiency with hyper-IgM, type 2. In: Online Mendelian Inheritance in Man . (English)
- ↑ Hyper-IgM syndrome without opportunistic infections. In: Orphanet (Rare Disease Database).