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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143047/
https://www.ncbi.nlm.nih.gov/pubmed/34040617
http://dx.doi.org/10.3389/fimmu.2021.682934