
TFR1 deficiency
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.