Skip to main content
IDF logo

TFR1 deficiency

Related gene: TFRC

Inheritance pattern: Autosomal recessive

Deficiency of transferrin receptor 1 (TFR1) is a rare, recessive immunodeficiency that has been associated with hypogammaglobulinemia, defective T cell function despite normal quantities, intermittent neutropenia and thrombocytopenia, and mild anemia. TFR1 deficiency has been successfully treated via hematopoietic stem cell transplantation (HSCT) with a resolution of all abnormalities.

Read the latest research

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