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

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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Bibliographic Details
Main Authors: Laura Viñas-Giménez, Rafael Rincón, Roger Colobran, Xavier de la Cruz, Verónica Paola Celis, José Luis Dapena, Laia Alsina, Joan Sayós, Mónica Martínez-Gallo
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Immunology
Subjects:
HLH
STXBP2
Langerhans-cell-histiocytosis
degranulation
NK
familial hemophagocytic lymphohistiocytosis−5 (f-HLH)
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.723836/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2021.723836/full

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