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

Patients with a combined immunodeficiency characterized by normal numbers, but impaired function, of T and B cells had a homozygous p.Tyr20His mutation in transferrin receptor 1 (TfR1), encoded by TFRC. The mutation disrupts the TfR1 internalization motif, resulting in defective receptor endocytosis...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696875/
https://www.ncbi.nlm.nih.gov/pubmed/26642240
http://dx.doi.org/10.1038/ng.3465

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