DISEASES

Disease-gene associations mined from literature

Human genes for X-linked agammaglobulinemia

X-linked agammaglobulinemia [DOID:14179]

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.

Synonyms:  X-linked agammaglobulinemia,  DOID:14179,  Xlinked agammaglobulinemia,  X-linked agammaglobulinemias,  Bruton agammaglobulinemia tyrosine kinase deficiency ...

Linkouts:  OMIM #1 #2