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Article

Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation.

Frontiers in immunology - 1 Jan 2021

Steininger Jolanda, Rossmanith Raphael, Geier Christoph B, Leiss-Piller Alexander, Thonhauser Lukas, Weiss Simone, Hainfellner Johannes A, Freilinger Michael, Schmidt Wolfgang M, Eibl Martha M, Wolf Hermann M

Abstract excerpt

X-linked lymphoproliferative disease (XLP1) is a combined immunodeficiency characterized by severe immune dysregulation caused by mutations in the SH2D1A/SAP gene. Loss or dysfunction of SH2D1A is associated with the inability in clearing Epstein-Barr-Virus (EBV) infections. Clinical manifestation is diverse and ranges from life-threatening hemophagocytic lymphohistiocytosis (HLH) and fulminant infectious...

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Identifiers

PMID: 34987501
DOI: 10.3389/fimmu.2021.747738
PMCID: PMC8721048

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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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