immunodeficiency with hyper-IgM type 2

Summary
Synonym
  • AID deficiency
  • HIGM2
  • activation-induced cytidine deaminase deficiency
  • hyper-IgM syndrome type 2
Definition
A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
Super Class
autosomal recessive disease hyper IgM syndrome
External Links
Disease Ontology
DOID:0060758
Mondo Disease Ontology
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7374 UNG uracil DNA glycosylase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024