|کد مقاله||کد نشریه||سال انتشار||مقاله انگلیسی||ترجمه فارسی||نسخه تمام متن|
|5654800||1589407||2017||3 صفحه PDF||سفارش دهید||دانلود کنید|
- We report the second known case of deficiency of RASGRP1 deficiency.
- RASGRP1 is essential for MAP-kinase mediated signaling in lymphocytes.
- Patients with RASGRP1 deficiency present with a combined immunodeficiency.
- These patients have increased susceptibility to EBV-driven lymphoma.
RASGRP1 is a guanine-nucleotide-exchange factor essential for MAP-kinase mediated signaling in lymphocytes. We report the second case of RASGRP1 deficiency in a patient with a homozygous nonsense mutation in the catalytic domain of the protein. The patient had epidermodysplasia verruciformis, suggesting a clinically important intrinsic T cell function defect. Like the previously described patient, our proband also presented with CD4+ T cell lymphopenia, impaired T cell proliferation to mitogens and antigens, reduced NK cell function, and EBV-associated lymphoma. The severity of the disease and the development of EBV lymphoma in both patients suggest that hematopoietic stem cell transplantation should be performed rapidly in patients with RASGRP1 deficiency.
Journal: Clinical Immunology - Volume 183, October 2017, Pages 142-144