Term Name: | X-linked hyper IgM syndrome |
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Synonyms: | HIGM1, hyper-IgM immunodeficiency syndrome type 1, hyper-IgM syndrome 1, hyper-IgM syndrome type 1, hyperimmunoglobulin M syndrome, immunodeficiency with hyper-IgM type 1, X-linked hyper-IgM immunodeficiency, XHIM |
Definition: | A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. |
Ontology: | Human Disease [DOID:6620] ( DOID:6620 ) |