TY  - GEN
AU  - Jabara,Haifa H
AU  - Boyden,Steven E
AU  - Chou,Janet
AU  - Ramesh,Narayanaswamy
AU  - Massaad,Michel J
AU  - Benson,Halli
AU  - Bainter,Wayne
AU  - Fraulino,David
AU  - Rahimov,Fedik
AU  - Sieff,Colin
AU  - Liu,Zhi-Jian
AU  - Alshemmari,Salem H
AU  - Al-Ramadi,Basel K
AU  - Al-Dhekri,Hasan
AU  - Arnaout,Rand
AU  - Abu-Shukair,Mohammad
AU  - Vatsayan,Anant
AU  - Silver,Eli
AU  - Ahuja,Sanjay
AU  - Davies,E Graham
AU  - Sola-Visner,Martha
AU  - Ohsumi,Toshiro K
AU  - Andrews,Nancy C
AU  - Notarangelo,Luigi D
AU  - Fleming,Mark D
AU  - Al-Herz,Waleed
AU  - Kunkel,Louis M
AU  - Geha,Raif S
TI  - A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
SN  - 1546-1718
PY  - 2016///0511
KW  - Adaptive Immunity
KW  - genetics
KW  - Anemia
KW  - Animals
KW  - Antigens, CD
KW  - B-Lymphocytes
KW  - immunology
KW  - Cell Cycle Proteins
KW  - Cells, Cultured
KW  - Endocytosis
KW  - Female
KW  - Fibroblasts
KW  - physiology
KW  - Humans
KW  - Immunologic Deficiency Syndromes
KW  - Male
KW  - Mice, Inbred C57BL
KW  - Mice, Mutant Strains
KW  - Mutation, Missense
KW  - Oncogene Proteins
KW  - Oxidoreductases
KW  - Pedigree
KW  - Receptors, Transferrin
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng.3465
ER  -