RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics

被引：0

作者：

Elisabeth Salzer

Deniz Cagdas

Miroslav Hons

Emily M Mace

Wojciech Garncarz

Özlem Yüce Petronczki

René Platzer

Laurène Pfajfer

Ivan Bilic

Sol A Ban

Katharina L Willmann

Malini Mukherjee

Verena Supper

Hsiang Ting Hsu

Pinaki P Banerjee

Papiya Sinha

Fabienne McClanahan

Gerhard J Zlabinger

Winfried F Pickl

John G Gribben

Hannes Stockinger

Keiryn L Bennett

Johannes B Huppa

Loïc Dupré

Özden Sanal

Ulrich Jäger

Michael Sixt

Ilhan Tezcan

Jordan S Orange

Kaan Boztug

机构：

[1] CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences,Department of Medicine I, Division of Hematology and Hemostaseology

[2] Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases,Department of Pediatrics and Adolescent Medicine

[3] Section of Pediatric Immunology,Department of Pediatrics

[4] Hacettepe University,undefined

[5] Ihsan Dogramaci Children's Hospital,undefined

[6] Institute of Science and Technology Austria,undefined

[7] Center for Human Immunobiology,undefined

[8] Baylor College of Medicine and Texas Children's Hospital,undefined

[9] Institute for Hygiene and Applied Immunology,undefined

[10] Center for Pathophysiology,undefined

[11] Infectiology and Immunology,undefined

[12] Medical University of Vienna,undefined

[13] Centre for Haemato-Oncology,undefined

[14] Barts Cancer Institute - a CR-UK Centre of Excellence,undefined

[15] Queen Mary University of London,undefined

[16] Institute of Immunology,undefined

[17] Center of Pathophysiology,undefined

[18] Infectiology and Immunology,undefined

[19] Medical University of Vienna,undefined

[20] Christian Doppler Laboratory for Immunomodulation and Institute of Immunology,undefined

[21] Center for Pathophysiology,undefined

[22] Infectiology and Immunology,undefined

[23] Medical University of Vienna,undefined

[24] Centre de Physiopathologie de Toulouse Purpan (CPTP),undefined

[25] INSERM,undefined

[26] UMR1043,undefined

[27] Toulouse Purpan University Hospital,undefined

[28] Medical University of Vienna,undefined

[29] Medical University of Vienna,undefined

[30] St. Anna Kinderspital and Children's Cancer Research Institute,undefined

[31] Medical University of Vienna,undefined

来源：

Nature Immunology | 2016年 / 17卷

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摘要：

Boztug and colleagues identify an immunodeficient patient with a deficiency in the guanine-nucleotide-exchange factor RASGRP1. They find that human RASGRP1 is important for the function of T cells, B cells and NK cells and that it has a role in the regulation of the cytoskeleton.

引用

页码：1352 / 1360

页数：8

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