immunodeficiency with hyper IgM type 5

Term ID

DOID:0060759

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. https://www.ncbi.nlm.nih.gov/pubmed/12958596

References

• GARD:10581
• OMIM:608106
• ORDO:101092
• UMLS_CUI:C1720958

Ontology

Human Disease   ( DOID:0060759 )