A hereditary immunodeficiency due to the failure of B-LYMPHOCYTES to mature and rearrangement failure of IG HEAVY CHAINS. Mutations in Agammaglobulinaemia tyrosine kinase (BTK gene) can cause X-linked AGAMMAGLOBULINEMIA type 1 (XLA). OMIM: 300755
Also Known As:
Agammaglobulinemia, BTK; Agammaglobulinemia, Bruton tyrosine kinase; Agammaglobulinemia, X-Linked; Agammaglobulinemia, X-Linked, Type I; Bruton's Agammaglobulinemia; Bruton-Type Agammaglobulinemia; Bruton-type (congenital X-linked) agammaglobulinemia; Congenital Agammaglobulinemia; Immunodeficiency 1; X-linked agammaglobulinemia