| Title | Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. |
| Publication Type | Journal Article |
| Year of Publication | 2022 |
| Authors | Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P et al. |
| Corporate Authors | CoV-Contact Cohort§ |
| Journal | Science |
| Pagination | eabo3627 |
| Date Published | 2022 Dec 20 |
| ISSN | 1095-9203 |
| Abstract | 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 dsRNA-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the ssRNA-degrading RNase L. Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNASEL deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or SARS-CoV-2 stimulation. Exogenous 2-5A suppresses cytokine production in OAS1- but not RNase L-deficient cells. Cytokine production in RNase L-deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by 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. |
| DOI | 10.1126/science.abo3627 |
| Alternate Journal | Science |
| PubMed ID | 36538032 |
