Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

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Citações na Scopus
47
Tipo de produção
article
Data de publicação
2023
DOI
Scopus
Web of Science
PubMed
Dimensions
Título da Revista
ISSN da Revista
Título do Volume
Editora
AMER ASSOC ADVANCEMENT SCIENCE
Autores
LEE, Danyel
PEN, Jeremie Le
YATIM, Ahmad
DONG, Beihua
AQUINO, Yann
OGISHI, Masato
PESCARMONA, Remi
TALOUARN, Estelle
RINCHAI, Darawan
ZHANG, Peng
Citação
SCIENCE, v.379, n.6632, p.554-+, 2023
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L-deficient cells. Cytokine production in RNase L-deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS-RNase L deficiencies in these patients unleash the production of SARS-CoV-2-triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C.
Palavras-chave
URI
https://observatorio.fm.usp.br/handle/OPI/58952
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - COVID-19