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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)
