期刊
CLINICAL IMMUNOLOGY
卷 183, 期 -, 页码 142-144出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.clim.2017.08.007
关键词
RASGRP1 deficiency; Epstein Barr Virus; Lymphoma; Epidermodysplasia verruciformis
类别
资金
- USPHS [K12 HD052896-10, 1K08AI116979-01, 1R21-AI124101]
- Perkin Fund
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. (C) 2017 Elsevier Inc. All rights reserved.
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