Article
RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.
Nature immunology - 1 Dec 2016
Salzer Elisabeth, Cagdas Deniz, Hons Miroslav, Mace Emily M, Garncarz Wojciech, Petronczki Özlem Yüce, Platzer René, Pfajfer Laurène, Bilic Ivan, Ban Sol A, Willmann Katharina L, Mukherjee Malini, Supper Verena, Hsu Hsiang Ting, Banerjee Pinaki P, Sinha Papiya, McClanahan Fabienne, Zlabinger Gerhard J, Pickl Winfried F, Gribben John G, Stockinger Hannes, Bennett Keiryn L, Huppa Johannes B, Dupré Loïc, Sanal Özden, Jäger Ulrich, Sixt Michael, Tezcan Ilhan, Orange Jordan S, Boztug Kaan
Abstract excerpt
RASGRP1 is an important guanine nucleotide exchange factor and activator of the RAS-MAPK pathway following T cell antigen receptor (TCR) signaling. The consequences of RASGRP1 mutations in humans are unknown. In a patient with recurrent bacterial and viral infections, born to healthy consanguineous parents, we used homozygosity mapping and exome sequencing to identify a biallelic stop-gain variant in RASGRP1....
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