| 1 | IMD46, TFRC |
| A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. | |
| Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. | |
| Nat Genet 48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7. 2016 | |