Term Name: X-linked agammaglobulinemia
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 )

Relationships
is a type of: agammaglobulinemia X-linked recessive disease