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| Term | immunodeficiency with hyper-IgM type 2 | ID (Ontology) | DOID:0060758 (Human Disease) |
| 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. | ||
| Also Known As | "activation-induced cytidine deaminase deficiency" ; "AID deficiency" ; "HIGM2" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal recessive disease__ hyperimmunoglobulin syndrome | |__hyper IgM syndrome___________| immunodeficiency with hyper-IgM type 2 |
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autosomal recessive disease hyper IgM syndrome |
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GARD:10578 MIM:605258 NCI:C129074 ORDO:101089 UMLS_CUI:C1720956 |
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