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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.

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Learn more about combined immune deficiencies.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA