Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1
AuthorsPlatt, Craig D.
Fried, Ari J.
Usmani, G. Naheed
Geha, Raif S.
UMass Chan AffiliationsDivision of Pediatrics, Division of Pediatric Hematology and Oncology
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AbstractRASGRP1 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.
SourceClin Immunol. 2017 Oct;183:142-144. doi: 10.1016/j.clim.2017.08.007. Epub 2017 Aug 16. Link to article on publisher's site
Permanent Link to this Itemhttp://hdl.handle.net/20.500.14038/43611
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