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Gene: TFRC
Inheritance pattern: Autosomal recessive
Deficiency of Transferrin receptor 1 (TFR1) is a rare recessive immunodeficiency, which has been associated with hypogammaglobulinemia, defective T cell function in spite of 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.
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
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