immunodeficiency with hyper IgM type 5 (DOID:0060759)
Alliance: disease page
Synonyms: HIGM5; hyper-IgM syndrome 5; hyper-IgM syndrome due to UNG deficiency; hyper-IgM syndrome due to uracil N-glycosylase
Alt IDs: OMIM:608106, ORDO:101092, UMLS_CUI:C1720958
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.