Search Ontology:
Human Disease

X-linked agammaglobulinemia

Term ID
DOID:14179
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. (2)
References
Ontology
Human Disease   ( DOID:14179 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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