X-linked agammaglobulinemia (DOID:14179)
Alliance: disease page
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
Alt IDs: OMIM:300755, MESH:C537409, NCI:C3822, ORDO:47, UMLS_CUI:C0221026
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.