Browsing by Author "Sancho-Shimizu, V."

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Open Access
A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection
(Elsevier, 2020) Casanova, J.-L.; Su, H. C.; Abel, L.; Aiuti, A.; Almuhsen, S.; Arias, A. A.; Bastard, P.; Biggs, C.; Bogunovic, D.; Boisson, B.; Boisson-Dupuis, S.; Bolze, A.; Bondarenko, A.; Bousfiha, A.; Brodin, P.; Bustamante, J.; Butte, M.; Casari, G.; Ciancanelli, M.; Cobat, A.; Condino-Neto, A.; Cooper, M.; Dalgard, C.; Espinosa, S.; Feldman, H.; Fellay, J.; Franco, J. L.; Hagin, D.; Itan, Y.; Jouanguy, E.; Lucas, C.; Mansouri, D.; Meyts, I.; Milner, J.; Mogensen, T.; Morio, T.; Ng, L.; Notarangelo, L. D.; Okada, S.; Özçelik, Tayfun; Palacín, P. S.; Planas, A.; Prando, C.; Puel, A.; Pujol, A.; Redin, C.; Renia, L.; Gallego, J. C. R.; Quintana-Murci, L.; Sancho-Shimizu, V.; Sankaran, V.; Seppänen, M. R. J.; Shahrooei, M.; Snow, A.; Spaan, A.; Tangye, S.; Tur, J. P.; Turvey, S.; Vinh, D. C.; von Bernuth, H.; Wang, X.; Zawadzki, P.; Zhang, Q.; Zhang, S.
SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent infection to lethal disease. The role of human genetics in determining clinical response to the virus remains unclear. Studies of outliers—individuals remaining uninfected despite viral exposure and healthy young patients with life-threatening disease—present a unique opportunity to reveal human genetic determinants of infection and disease.
Open Access
Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
(American Association for the Advancement of Science (AAAS), 2022-12-20) Lee, D.; Pen, J. L.; Yatim, A.; Dong, B.; Aquino, Y.; Ogishi, M.; Pescarmona, R.; Talouarn, E.; Rinchai, D.; Zhang, P.; Perret, M.; Liu, Z.; Jordan, L.; Bozdemir, S. E.; Bayhan, G. I.; Beaufils, C.; Bizien, L.; Bisiaux, A.; Lei, W.; Hasan, M.; Chen, J.; Gaughan, C.; Asthana, A.; Libri, V.; Luna, Joseph M.; Jaffré, Fabrice; Hoffmann, H.; Michailidis, E.; Moreews, M.; Seeleuthner, Y.; Bilguvar, K.; Mane, S.; Flores, C.; Zhang, Y.; Arias, A. A.; Bailey, R.; Schlüter, A.; Milisavljevic, B.; Bigio, B.; Voyer, T. L.; Materna, M.; Gervais, A.; Moncada-Velez, M.; Pala, F.; Lazarov, T.; Levy, R.; Neehus, A.; Rosain, J.; Peel, J.; Chan, Y.; Morin, M.; Pino-Ramirez, R. M.; Belkaya, Serkan; Lorenzo, L.; Anton, J.; Delafontaine, S.; Toubiana, J.; Bajolle, F.; Fumadó, V.; DeDiego, M. L.; Fidouh, N.; Rozenberg, F.; Pérez-Tur, J.; Chen, S.; Evans, T.; Geissmann, F.; Lebon, P.; Weiss, S. R.; Bonnet, D.; Duval, X.; Cohort§, C.; Effort, C.; Pan-Hammarström, Q.; Planas, A. M.; Meyts, I.; Haerynck, F.; Pujol, A.; Sancho-Shimizu, V.; Dalgard, C.; Bustamante, J.; Puel, A.; Boisson-Dupuis, S.; Boisson, B.; Maniatis, T.; Zhang, Q.; Bastard, P.; Notarangelo, L.; Béziat, V.; Diego, R.; Rodriguez-Gallego, C.; Su, H. C.; Lifton, R. P.; Jouanguy, E.; Cobat, A.; Alsina, L.; Keles, S.; Haddad, E.; Abel, L.; Belot, A.; Quintana-Murci, L.; Rice, C. M.; Silverman, R. H.; Zhang, S.; Casanova, J.
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.
Open Access
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
(Rockefeller University Press, 2021) Sancho-Shimizu, V.; Brodin, P.; Cobat, A.; Biggs, C. M.; Toubiana, J.; Lucas, C. L.; Henrickson, S. E.; Belot, A.; MIS-C@CHGE; Tangye, S. G.; D. Milner, J.; Levin, M.; Abel, L.; Bogunovic, D.; Casanova, J.-L.; Zhang, S. -Y.; Özçelik, Tayfun
Multisystem inflammatory syndrome in children (MIS-C) emerged in April 2020 in communities with high COVID-19 rates. This new condition is heterogenous but resembles Kawasaki disease (KD), a well-known but poorly understood and clinically heterogenous pediatric inflammatory condition for which weak associations have been found with a myriad of viral illnesses. Epidemiological data clearly indicate that SARS-CoV-2 is the trigger for MIS-C, which typically occurs about 1 mo after infection. These findings support the hypothesis of viral triggers for the various forms of classic KD. We further suggest that rare inborn errors of immunity (IEIs) altering the immune response to SARS-CoV-2 may underlie the pathogenesis of MIS-C in some children. The discovery of monogenic IEIs underlying MIS-C would shed light on its pathogenesis, paving the way for a new genetic approach to classic KD, revisited as a heterogeneous collection of IEIs to viruses.