Printable factfile
Hyper-IgM syndrome is characterised by normal or elevated serum IgM levels associated with low or absent IgG, IgA, IgE levels and impaired Ig class-switch recombination (CSR). HIGM4 is a new entity of HIGM with the clinical phenotype similar with AID deficiency (HIGM2).
Alternative names
HIGM4
Hyper-IgM syndrome type 4
Classification
- Deficiencies predominantly affecting antibody production
- Defects of class-switch recombination and somatic hypermutation (Hyper-IgM syndromes) affecting B cells
Inheritance
Autosomal recessive
OMIM
*608184 Immunodeficiency with hyper-IgM, type 4
Cross references
Phenotypically related immunodeficiencies
IDR factfile for AID deficiency
IDR factfile for X-linked hyper-IgM syndrome (CD40L deficiency)
Incidence
Incidence is not known.