Term Name: | immunodeficiency with hyper-IgM type 2 |
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Synonyms: | activation-induced cytidine deaminase deficiency, AID deficiency, HIGM2, 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. |
Ontology: | Human Disease [DOID:0060758] ( DOID:0060758 ) |