Term Name: immunodeficiency with hyper IgM type 5
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 )

Relationships
is a type of: autosomal recessive disease hyper IgM syndrome