Kurumun Atıf Alan Makalesi
Atıf Alan Yayın
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Scopus
Open Access Toplam 1.805 atıf DOI
Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patients (3.5%) 17 to 77 years of age. We show that human fibroblasts with mutations affecting this circuit are vulnerable to SARS-CoV-2. Inborn errors of TLR3- and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection.
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Atıf Yapan Yayın
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Scopus
Havuzumuzda Open Access 137 atıf almış
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.
Atıf Yapan Makale Bilgileri
Kurumlar (74)
Ankara City Hospital
Ankara, Turkey
Ankara Yildirim Beyazit University
Ankara, Turkey
Atatürk Üniversitesi
Erzurum, Turkey
Balıkesir Atatürk City Hospital
Balikesir, Turkey
BC Children's Hospital Research Institute
Vancouver, Canada
Bilkent Üniversitesi
Ankara, Turkey
Bursa City Hospital
Bursa, Turkey
CEDOC
Lisbon, Portugal
Centro de Investigación Biomédica en Red de Enfermedades Respiratorias
Madrid, Spain
Centro de Regulacion Genomica, Barcelona
Barcelona, Spain