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Article

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

Journal of clinical immunology - 1 Aug 2018

Somekh Ido, Marquardt Benjamin, Liu Yanshan, Rohlfs Meino, Hollizeck Sebastian, Karakukcu Musa, Unal Ekrem, Yilmaz Ebru, Patiroglu Turkan, Cansever Murat, Frizinsky Shirly, Vishnvenska-Dai Vicktoria, Rechavi Erez, Stauber Tali, Simon Amos J, Lev Atar, Klein Christoph, Kotlarz Daniel, Somech Raz

Abstract excerpt

PURPOSE: 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...

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Share to Autoimmunity
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30030704
DOI: 10.1007/s10875-018-0533-8

Genes

RASGRP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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