Familial CNS-Isolated Hemophagocytic Lymphohistiocytosis Due to a Novel PRF1 Mutation Triggered by SARS-CoV2

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition that presents with fever, hepatosplenomegaly, and characteristic laboratory findings. Mutations in the perforin gene PRF1 have been implicated in cases of familial HLH (fHLH) and can cause isolate...

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Detalles Bibliográficos
Autores principales: Caldito, Natalia Gonzalez, Lorenzo, Jocelyn, Wang, Cynthia Xinzi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9996508/
https://www.ncbi.nlm.nih.gov/pubmed/36911442
http://dx.doi.org/10.4103/aian.aian_719_22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9996508/
https://www.ncbi.nlm.nih.gov/pubmed/36911442
http://dx.doi.org/10.4103/aian.aian_719_22

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