A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

• Published in: Nature genetics Vol. 48; no. 1; pp. 74 - 78
• Main Authors: Jabara, Haifa H, Boyden, Steven E, Chou, Janet, Ramesh, Narayanaswamy, Massaad, Michel J, Benson, Halli, Bainter, Wayne, Fraulino, David, Rahimov, Fedik, Sieff, Colin, Liu, Zhi-Jian, Alshemmari, Salem H, Al-Ramadi, Basel K, Al-Dhekri, Hasan, Arnaout, Rand, Abu-Shukair, Mohammad, Vatsayan, Anant, Silver, Eli, Ahuja, Sanjay, Davies, E Graham, Sola-Visner, Martha, Ohsumi, Toshiro K, Andrews, Nancy C, Notarangelo, Luigi D, Fleming, Mark D, Al-Herz, Waleed, Kunkel, Louis M, Geha, Raif S
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.01.2016; Nature Publishing Group
• Subjects: 13/109; 631/250/248; 692/699/249/1570; 96/31; Adaptive Immunity - genetics; Agriculture; Analysis; Anemia - genetics; Animal Genetics and Genomics; Animals; Antigens, CD - genetics; Antigens, CD - immunology; Antigens, CD - metabolism; B cells; B-Lymphocytes - immunology; B-Lymphocytes - metabolism; Biomedicine; Cancer Research; Cell Cycle Proteins; Cell growth; Cells, Cultured; Endocytosis; Experiments; Families & family life; Female; Fibroblasts - physiology; Gene expression; Gene Function; Genetic aspects; Genomes; Grants; Haplotypes; Human Genetics; Humans; Immunodeficiency; Immunologic Deficiency Syndromes - genetics; Infections; Laboratories; letter; Lymphocytes; Male; Medical research; Medical schools; Mice, Inbred C57BL; Mice, Mutant Strains; Mutation; Mutation, Missense; Neonatology; Oncogene Proteins - genetics; Oncogene Proteins - metabolism; Oxidoreductases; Pedigree; Receptors, Transferrin - genetics; Receptors, Transferrin - immunology; Receptors, Transferrin - metabolism; T cell receptors; Tetanus toxoid; Transferrin

Raif Geha, Louis Kunkel, Waleed Al-Herz and colleagues report a mutation in TFRC (encoding transferrin receptor 1, TfR1) that causes combined immunodeficiency characterized by impaired function of T and B cells in homozygous patients. Iron citrate rescued the lymphocyte defects in patient-derived ce...