Lack of IL7R alpha expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)

Autor: Arend Bökenkamp, Kira Y. Dionis-Petersen, Lan Xiang Liu, Neeraja Kambham, Helen Fryssira, Ayşe İpek Polat, Mattia Gentile, C. Nur Semerci, Tracy E. Hunley, Katarina Mitrovic, Behzad Najafian, Radovan Bogdanovic, Mrinmoy Sanyal, Uluç Yiş, Encarna Guillen-Navarro, Katie Felix, Marie Morimoto, Christy Mayfield, Alireza Baradaran-Heravi, Thomas Lücke, Susan A. Berry, Cornelius F. Boerkoel, David B. Lewis, Kent P. Jensen, Kunho Choi, Lydia Najera, Giuliana Lama, Suparna Dutt, Michel Tsimaratos, Ann Haskins Olney, Benjamin Dekel, Milena Brugnara

Publikováno v: Clinical Immunology, 161(2), 355-365. Academic Press Inc.
Sanyal, M, Morimoto, M, Baradaran-Heravi, A, Choi, K, Kambham, N, Jensen, K, Dutt, S, Dionis-Petersen, K Y, Liu, L X, Felix, K, Mayfield, C, Dekel, B, Bokenkamp, A, Fryssira, H, Guillen-Navarro, E, Lama, G, Brugnara, M, Lucke, T, Olney, A H, Hunley, T E, Polat, A I, Yis, U, Bogdanovic, R, Mitrovic, K, Berry, S, Najera, L, Najafian, B, Gentile, M, Semerci, C N, Tsimaratos, M, Lewis, D B & Boerkoel, C F 2015, ' Lack of IL7R alpha expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD) ', Clinical Immunology, vol. 161, no. 2, pp. 355-365 . https://doi.org/10.1016/j.clim.2015.10.005

Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMAR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f50c6086f08104dec7b390962062b36b
https://doi.org/10.1016/j.clim.2015.10.005