STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis

Neonatal hemophagocytic lymphohistiocytosis (HLH) is a medical emergency that can be associated with significant morbidity and mortality. Often these patients present with familial HLH (f-HLH), which is caused by gene mutations interfering with the cytolytic pathway of cytotoxic T-lymphocytes (CTLs)...

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Detalles Bibliográficos
Autores principales: Benavides, Nathalia, Spessott, Waldo A., Sanmillan, Maria L., Vargas, Marcelo, Livingston, Mylynda S., Erickson, Nissa, Pozos, Tamara C., McCormick, Margaret E., Scharrig, Emilia, Messinger, Yoav H., Giraudo, Claudio G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7580532/
https://www.ncbi.nlm.nih.gov/pubmed/33162974
http://dx.doi.org/10.3389/fimmu.2020.545414

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7580532/
https://www.ncbi.nlm.nih.gov/pubmed/33162974
http://dx.doi.org/10.3389/fimmu.2020.545414

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