Summary Literature (0)

DOID:0060027 - B cell linker protein deficiency

Disease Ontology Definition:A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.

Synonyms: B-cell linker protein deficiency, BLNK deficiency,

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0000584 - B cell linker protein deficiency

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

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