Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1
Copyright © 2017 Elsevier Inc. All rights reserved.
| Publié dans: | Clinical immunology (Orlando, Fla.). - 1999. - 183(2017) vom: 05. Okt., Seite 142-144 |
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| Auteur principal: | |
| Autres auteurs: | , , , , , , , |
| Format: | Article en ligne |
| Langue: | English |
| Publié: |
2017
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| Accès à la collection: | Clinical immunology (Orlando, Fla.) |
| Sujets: | Case Reports Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Epidermodysplasia verruciformis Epstein Barr Virus Lymphoma RASGRP1 deficiency Codon, Nonsense DNA-Binding Proteins plus... |
| Résumé: | Copyright © 2017 Elsevier Inc. All rights reserved. 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 |
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| Description: | Date Completed 21.11.2017 Date Revised 13.11.2018 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 1521-7035 |
| DOI: | 10.1016/j.clim.2017.08.007 |