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X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis

Authors :
Raquel de la Varga-Martínez
Sebastián Quintero
M Paz Garrastazul-Sánchez
Almudena Sampalo
Carmen Rodríguez
Daniel García-Cuesta
Francisco Mora-López
Source :
Journal of Pediatric Hematology/Oncology. 39:e483-e485
Publication Year :
2017
Publisher :
Ovid Technologies (Wolters Kluwer Health), 2017.

Abstract

Hemophagocytic lymphohistiocytosis is characterized by uncontrolled activation of the immune system that leads to systemic hyperinflammation. Lymphoproliferative syndrome linked to the X chromosome is a hereditary immunodeficiency characterized by an inability to mount an adequate immune response to an Epstein-Barr virus infection. Hemophagocytic lymphohistiocytosis is one of the main clinical features of X-linked lymphoproliferative syndrome. We report the case of a patient who presented with primary hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection without a familial history of immunodeficiency. A mutation in the SH2D1A gene was identified, which confirmed the diagnosis of type 1 X-linked lymphoproliferative syndrome.

Details

ISSN :
10774114
Volume :
39
Database :
OpenAIRE
Journal :
Journal of Pediatric Hematology/Oncology
Accession number :
edsair.doi.dedup.....85a2b4ceff204e986eff2fc2277fcd4f