Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder. HLH can be considered as a threshold disease depending on the trigger and the residual NK-cell cytotoxicity. In this study, we analyzed the molecular and functional impact of a novel monoallelic mutation found...

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Detalles Bibliográficos
Autores principales: Viñas-Giménez, Laura, Rincón, Rafael, Colobran, Roger, de la Cruz, Xavier, Celis, Verónica Paola, Dapena, José Luis, Alsina, Laia, Sayós, Joan, Martínez-Gallo, Mónica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8496341/
https://www.ncbi.nlm.nih.gov/pubmed/34630398
http://dx.doi.org/10.3389/fimmu.2021.723836

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8496341/
https://www.ncbi.nlm.nih.gov/pubmed/34630398
http://dx.doi.org/10.3389/fimmu.2021.723836

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