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Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant.

Frontiers in immunology - 1 Jan 2021

Mika Thomas, Vangala Deepak, Eckhardt Matthias, La Rosée Paul, Lange Christoph, Lehmberg Kai, Wohlschläger Charlotte, Biskup Saskia, Fuchs Ilka, Mann Jasmin, Ehl Stephan, Warnatz Klaus, Schroers Roland

Abstract excerpt

Hemophagocytic lymphohistiocytosis (HLH) is a disorder of uncontrolled immune activation with distinct clinical features including fever, cytopenia, splenomegaly, and sepsis-like symptoms. In a young adolescent patient a novel germline GATA2 variant (NM_032638.5 (GATA2): c.177C>G, p.Tyr59Ter) was discovered and had resulted in non-tuberculous mycobacterial (NTM) infection and aggressive HLH. Strikingly, impaired...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Killer Cells, Natural

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Share to Mycobacterium Infections, Nontuberculous

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Source

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Identifiers

PMID: 34040617
DOI: 10.3389/fimmu.2021.682934
PMCID: PMC8143047

Provenance

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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