The more you understand about primary immunodeficiency (PI), the better you can live with the disease or support others in your life with PI. Learn more about PI, including the various diagnoses and treatment options.
Living with primary immunodeficiency (PI) can be challenging, but you’re not alone—many people with PI lead full and active lives. With the right support and resources, you can, too.
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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.
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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