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Article

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

Journal of pediatric hematology/oncology - 1 Nov 2017

de la Varga-Martínez Raquel, Mora-López Francisco, García-Cuesta Daniel, Garrastazul-Sánchez M Paz, Quintero Sebastián, Rodríguez Carmen, Sampalo Almudena

Abstract excerpt

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...

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PMID: 28816794
DOI: 10.1097/MPH.0000000000000938

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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