Search Ontology:
Human Disease

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
  • MIM:608106
  • ORDO:101092
  • UMLS_CUI:C1720958
Ontology
Human Disease   ( DOID:0060759 )
Relationships
is a type of
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Genes Involved
Zebrafish Models