immunodeficiency with hyper IgM type 5

Summary
Synonym
  • 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.
Super Class
autosomal recessive disease hyper IgM syndrome
External Links
Disease Ontology
DOID:0060759
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7374 UNG uracil DNA glycosylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
22256 Ung uracil DNA glycosylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
176633 ung-1 Uracil-DNA glycosylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
854987 UNG1 uracil-DNA glycosylase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0002718 Recurrent bacterial infections
HP:0003496 Increased circulating IgM level
HP:0000031 Epididymitis
HP:0011463 Childhood onset
HP:0002721 Immunodeficiency
HP:0000007 Autosomal recessive inheritance
HP:0004315 Decreased circulating IgG level
HP:0002720 Decreased circulating IgA level
HP:0200117 Recurrent upper and lower respiratory tract infections
HP:0002716 Lymphadenopathy
Displaying 1 entry
Gene ID Gene Symbol Description
7374 UNG uracil DNA glycosylase

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Acknowledgements

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Last updated: August 19, 2024