IMD56 is a form of primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Mutations in the IL21R gene have been shown to cause this autosomal recessive condition.
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Certain disorders involving the immune mechanism
Autosomal recessive
16p12.1
IMD56 is a form of primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Mutations in the IL21R gene have been shown to cause this autosomal recessive condition.