Term Name: | immunodeficiency with hyper IgM type 5 |
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Synonyms: | HIGM5, hyper-IgM syndrome 5, hyper-IgM syndrome due to UNG deficiency, hyper-IgM syndrome due to uracil N-glycosylase |
Definition: | A hyper IgM syndrome that is 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 that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. |
Ontology: | Human Disease [DOID:0060759] ( DOID:0060759 ) |