BLNK deficiency

The BLNK deficiency is caused by BLNK gene, a scaffold protein that binds BTK, PLCγ2, Grb2, Vav and Nck and is associated with intracellular calcium mobilization, essential for cell activation. All patients with defects in BLNK have a block in B cell differentiation at the pro-B to pre-B cell transition. Two patients with agammaglobulinemia and defects in BLNK have been identified.

Alternative names

Hypoglobulinemia and absent B cells


  • Deficiencies predominantly affecting antibody production
    • Agammaglobulinemia


Autosomal recessive