OBO ID: DOID:0060759
Term Name: immunodeficiency with hyper IgM type 5 Search Ontology:
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:
Ontology: Human Disease   (DOID:0060759)
OTHER immunodeficiency with hyper IgM type 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UNG Immunodeficiency with hyper IgM, type 5 608106
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None