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

• MESH:C537409
• NCI:C3822
• OMIM:300755
• ORDO:47
• SNOMEDCT_US_2023_03_01:65880007
• UMLS_CUI:C0221026

Ontology

Human Disease   ( DOID:14179 )