IL21 pathway deficiency
Related genes: IL21, IL21R
Inheritance pattern: Autosomal recessive
Deficiencies of the cytokine IL-21 and IL21 receptor are a rare category of primary immunodeficiency that has been described in children with very early onset inflammatory bowel disease, liver disease, and immunodeficiency with T cell and B cell defects. Ig replacement therapy and measures to prevent infections are warranted. Hematopoietic stem cell transplantation (HSCT) may be warranted for the treatment of this disorder.