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A Rare STXBP2 Mutation in Severe COVID-19 and Secondary Cytokine Storm Syndrome

Background: Primary (familial) hemophagocytic lymphohistiocytosis (pHLH) is a potentially lethal syndrome of infancy, caused by genetic defects in natural killer (NK) cell and CD8 T cell cytotoxicity, leading to hyperinflammation, elevated cytokine levels, and a disorganized immune response resultin...

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Principais autores: Daniel D. Reiff, Mingce Zhang, Emily A. Smitherman, Melissa L. Mannion, Matthew L. Stoll, Peter Weiser, Randy Q. Cron
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2022-01-01
coleção:Life
Assuntos:
hemophagocytic lymphohistiocytosis
macrophage activation syndrome
cytokine storm syndrome
COVID-19
genetics
mutation
Acesso em linha:https://www.mdpi.com/2075-1729/12/2/149
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