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

Atıf İçin Kopyala

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

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.38, sa.6, ss.699-710, 2018 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 38 Sayı: 6
Basım Tarihi: 2018
Doi Numarası: 10.1007/s10875-018-0533-8
Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.699-710
Anahtar Kelimeler: Autoimmunity, EBV, lymphoproliferation, PID, RASGRP1, T cell development, T-CELL DEVELOPMENT, SYSTEMIC-LUPUS-ERYTHEMATOSUS, NON-HODGKIN-LYMPHOMA, RASGRP1-DEFICIENT MICE, LINEAGE COMMITMENT, RAS, ACTIVATION, DISEASES, DIFFERENTIATION, HOMEOSTASIS
Erciyes Üniversitesi Adresli: Evet

Özet

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.