Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency with hyper IgM type 5
DOID:0060759
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency with hyper IgM type 5

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.
Synonyms
  • HIGM5
  • hyper-IgM syndrome 5
Cross References
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