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. , ...Daha Fazla

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.38, ss.699-710, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 38 Konu: 6
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1007/s10875-018-0533-8
  • Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
  • Sayfa Sayıları: ss.699-710

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.