Summary Literature (0)

DOID:14179 - Bruton-type agammaglobulinemia

Disease Ontology Definition:A B cell deficiency 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.

Synonyms: BTK deficiency, Bruton agammaglobulinemia tyrosine kinase deficiency, Bruton's Sex-Linked Agammaglobulinemia, Bruton's agammaglobulinaemia, Bruton's type agammaglobulinemia, X-linked agammaglobulinemia (disorder),

Echinobase Genes :


OMIM:

MIM:300755 - agammaglobulinemia, x-linked; xla

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee