Term Name: | X-linked agammaglobulinemia |
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Synonyms: | Bruton agammaglobulinemia tyrosine kinase deficiency, Bruton disease, Bruton's agammaglobulinaemia, Bruton's Sex-Linked Agammaglobulinemia, Bruton's type agammaglobulinemia, Bruton-type agammaglobulinemia, BTK deficiency |
Definition: | An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. |
Ontology: | Human Disease [DOID:14179] ( DOID:14179 ) |