Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

Somekh, Ido; Marquardt, Benjamin; Liu, Yanshan; Rohlfs, Meino; Hollizeck, Sebastian; KARAKÜKCÜ, MUSA; ÜNAL, EKREM; YILMAZ, EBRU; PATIROĞLU, TÜRKAN; Cansever, MURAT; Frizinsky, Shirly; Vishnvenska-Dai, Vicktoria; Rechavi, Erez; Stauber, Tali; Simon, Amos; Lev, Atar; Klein, Christoph; Kotlarz, Daniel; Somech, Raz

doi:10.1007/s10875-018-0533-8

Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

Somekh I., Marquardt B., Liu Y., Rohlfs M., Hollizeck S., KARAKÜKCÜ M., ...More

JOURNAL OF CLINICAL IMMUNOLOGY, vol.38, no.6, pp.699-710, 2018 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 38 Issue: 6
Publication Date: 2018
Doi Number: 10.1007/s10875-018-0533-8
Journal Name: JOURNAL OF CLINICAL IMMUNOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.699-710
Keywords: Autoimmunity, EBV, lymphoproliferation, PID, RASGRP1, T cell development
Erciyes University Affiliated: Yes

Abstract

RAS guanyl-releasing protein 1 (RASGRP1) deficiency has recently been shown to cause a primary immunodeficiency (PID) characterized by CD4(+) T cell lymphopenia and Epstein-Barr virus (EBV)-associated B cell lymphoma. Our report of three novel patients widens the scope of RASGRP1 deficiency by providing new clinical and immunological insights on autoimmunity, immune cell development, and predisposition to lymphoproliferative disease.