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SCI-Expanded JCR Q1 Özgün Makale Scopus
Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
American Association for the Advancement of Science (AAAS) 2023 Cilt 379
Scopus Eşleşmesi Bulundu
89
Atıf
379
Cilt
🔓
Açık Erişim
Scopus Yazarları: Darawan Rinchai, Zhiyong Liu, Iolanda Jordan, Gulsum Iclal Bayhan, Camille Beaufils, Jie Chen, Tomi Lazarov, Lazaro Lorenzo, Jordi Anton, Flore Rozenberg, Xavier Duval, Ahmad Yatim, Beihua Dong, Yann Aquino, Estelle Talouarn, Peng Zhang, Weite Lei, Milena Hasan, H. Heinrich Hoffmann, Eleftherios Michailidis, Kaya Bilguvar, Carlos Flores, Marcela Moncada-Velez, Francesca Pala, Yi Hao Chan, Serkan Belkaya, Selket Delafontaine, Danyel Lee, Jérémie Le Pen, Masato Ogishi, Rémi Pescarmona, Marion Moreews, Yoann Seeleuthner, Shrikant Mane, Yu Zhang, Rasheed Bailey, Baptiste Milisavljevic, Benedetta Bigio, Adrian Gervais, Romain Lévy, Anna Lena Neehus, Marie Paule Morin, Rosa Maria Pino-Ramirez, Magali Perret, Sefika Elmas Bozdemir, Lucy Bizien, Aurelie Bisiaux, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M. Luna, Fabrice Jaffré, Andrés Augusto Arias, Agatha Schlüter, Tom Le Voyer, Marie Materna, Jérémie Rosain, Jessica Peel, Julie Toubiana, Fanny Bajolle, Victoria Fumadó, Marta L. DeDiego, Nadhira Fidouh, Jordi Perez-Tur, Shuibing Chen, Todd Evans, Frédéric Geissmann, Pierre Lebon, Susan R. Weiss, Bertrand Boisson, Qian Zhang, Luigi Notarangelo, Rebeca Pérez de Diego, Richard P. Lifton, Aurélie Cobat, Laia Alsina, Isabelle Meyts, Aurora Pujol, Vanessa Sancho-Shimizu, Paul Bastard, Vivien Béziat, Carlos Rodriguez-Gallego, Helen C. Su, Elie Haddad, Robert H. Silverman, Damien Bonnet, Qiang Pan-Hammarström, Anna M. Planas, Anne Puel, Emmanuelle Jouanguy, Sevgi Keles, Charles M. Rice, Filomeen Haerynck, Clifton L. Dalgard, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Tom Maniatis, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci
Özet
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.

Makale Bilgileri

Dergi American Association for the Advancement of Science (AAAS)
ISSN 0036-8075
Yıl 2023 / 2. ay
Cilt / Sayı 379
Makale Türü Özgün Makale
Hakemlik Hakemli
Endeks SCI-Expanded
JCR Quartile Q1
Yayın Dili İngilizce
Kapsam Uluslararası
Toplam Yazar 352 kişi
Erişim Türü Basılı+Elektronik
Erişim Linki Makaleye Git
Alan Sağlık Bilimleri Temel Alanı Çocuk Enfeksiyon Hastalıkları

YÖKSİS Yazar Kaydı

Yazar Adı ELMAS BOZDEMİR ŞEFİKA, BAYHAN GÜLSÜM İCLAL, KELEŞ SEVGİ, Genetic Effort COVID Human, METİN AKCAN ÖZGE, AKÇAY NİHAL, ALKAN GÜLSÜM, GAYRETLİ AYDIN ZEYNEP GÖKÇE, Aytekin Caner, AYTEKİN GÖKHAN, EROL AYTEKİN SELMA, BELKAYA SERKAN, BURSAL DURAMAZ BURCU, EMİROĞLU MELİKE, ERDENİZ EMİNE HAFİZE, KANIK YÜKSEK SALİHA, KARBUZ ADEM, ÖZ FATMA NUR, HANÇERLİ TÖRÜN SELDA, UYAR EMEL, Parlakay Aslınur Özkaya
YÖKSİS ID 6768681

Metrikler

Scopus Atıf 89
JCR Quartile Q1
Yazar Sayısı 352