Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1

Platt, Craig D.; Fried, Ari J.; Hoyos-Bachiloglu, Rodrigo; Usmani, G. Naheed; Schmidt, Birgitta; Whangbo, Jennifer; Chiarle, Roberto; Chou, Janet; Geha, Raif S.


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.

Más información

Título según WOS: ID WOS:000414888600018 Not found in local WOS DB
Título de la Revista: CLINICAL IMMUNOLOGY
Volumen: 183
Fecha de publicación: 2017
Página de inicio: 142
Página final: 144


Notas: ISI