Scopus
🔓 Açık Erişim YÖKSİS DOI Eşleşti
SJR Q1
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Journal of Experimental Medicine · Aralık 2024
Özet
Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, “burdenMC,” which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.2, 95% CI: 3.5-5.3, P < 10-6). BTNL8 encodes an intestinal epithelial regulator of Vγ4+γδ T cells implicated in regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent in patients with COVID-19 or bacterial disease. Using an available functional test for BTNL8, rare variants from a larger cohort of MIS-C patients (n = 835) were tested which identified eight variants in 18 patients (2.2%) with impaired engagement of Vγ4+γδ T cells. Most of these variants were in the B30.2 domain of BTNL8 implicated in sensing epithelial cell status. These findings were associated with altered intestinal permeability, suggesting a possible link between disrupted gut homeostasis and MIS-C-associated enteropathy triggered by SARS-CoV-2.
YÖKSİS Kayıtları
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Journal of Experimental Medicine · 2024 SCI-Expanded
Prof. Dr. MELİKE EMİROĞLU →
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Journal of Experimental Medicine · 2024 SCI-Expanded
Doç. Dr. GÜLSÜM ALKAN →
YÖKSİS Kayıtları — ISSN Eşleşmesi
Bu dergide (ISSN eşleşmesi) kurumun 9 kaydı bulundu.
YÖKSİS Kayıtları — ISSN Eşleşmesi
Bu dergide (ISSN eşleşmesi) kurumun 9 kaydı bulundu.
SARS-CoV-2\u2013related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
2021 ISSN: 0022-1007 SCI-Expanded Q1
Prof. Dr. MELİKE EMİROĞLU →
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
2021 ISSN: 0022-1007 SCI-Expanded Q1
Doç. Dr. GÜLSÜM ALKAN →
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
2022 ISSN: 0022-1007 SCI-Expanded Q1
Doç. Dr. GÜLSÜM ALKAN →
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.
2023 ISSN: 0022-1007 SCI-Expanded Q1
Prof. Dr. MELİKE EMİROĞLU →
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
2021 ISSN: 0022-1007 SCI-Expanded Q1
Prof. Dr. JALE BENGİ ÇELİK →
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
2024 ISSN: 0022-1007 SCI-Expanded Q1
Doç. Dr. GÜLSÜM ALKAN →
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
2024 ISSN: 0022-1007 SCI-Expanded Q1
Doç. Dr. GÜLSÜM ALKAN →
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
2024 ISSN: 0022-1007 SCI-Expanded Q1
Prof. Dr. MELİKE EMİROĞLU →
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
2021 ISSN: 0022-1007 SCI-Expanded Q1
Prof. Dr. JALE BENGİ ÇELİK →
Makale Bilgileri
Toplam Atıf
12 atıf
· Scopus
ISSN00221007
Yayın TarihiAralık 2024
Cilt / Sayfa221
Scopus ID2-s2.0-85210466949
Erişim🔓 Açık Erişim
Kurumlar
Aix Marseille Université
Marseille France
Ankara City Hospital
Ankara Turkey
Ankara Yildirim Beyazit University
Ankara Turkey
Bilkent Üniversitesi
Ankara Turkey
Bristol Myers Squibb
Princeton United States
Charles University
Prague Czech Republic
CHU de Lyon
Lyon France
CHU Sainte-Justine - Le Centre Hospitalier Universitaire Mère-Enfant
Montreal Canada
Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital
Ankara Turkey
Emma Kinderziekenhuis
Amsterdam Netherlands
Emory University
Atlanta United States
Evelina London Children's Healthcare
London United Kingdom
Faculty of Life Sciences & Medicine
London United Kingdom
Gazi University, Faculty of Medicine
Ankara Turkey
Great Ormond Street Hospital for Children NHS Foundation Trust
London United Kingdom
Guy's Hospital
London United Kingdom
Helix OpCo LLC
San Diego United States
Hôpital Necker Enfants Malades
Paris France
Hôpital Universitaire Pitié Salpêtrière
Paris France
Hospital Regional Universitario Carlos Haya
Malaga Spain
Hospital Universitario Marqués de Valdecilla
Santander Spain
Imam Abdulrahman Bin Faisal University
Dammam Saudi Arabia
Imperial College Faculty of Medicine
London United Kingdom
Imperial College London
London United Kingdom
Institució Catalana de Recerca i Estudis Avançats
Barcelona Spain
Institut d'Investigació Biomedica de Bellvitge
Hospitalet de Llobregat Spain
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid Spain
Instituto de Salud Carlos III
Madrid Spain
International European University
Kyiv Ukraine
Karadeniz Teknik Üniversitesi Tip Fakültesi
Trabzon Turkey
King Fahd Hospital of the University
Al-Khobar Saudi Arabia
l'Institut des Maladies Génétiques Imagine
Paris France
Necmettin Erbakan Üniversitesi
Meram Turkey
Rady Children's Hospital
San Diego United States
Rockefeller University
New York United States
Selçuk Tip Fakültesi
Konya Turkey
Shupyk National Healthcare University of Ukraine
Kyiv Ukraine
St Thomas' Hospital
London United Kingdom
Syngene International Ltd
Bengaluru India
The Francis Crick Institute
London United Kingdom
The University of Hong Kong Li Ka Shing Faculty of Medicine
Hong Kong Hong Kong
UCL Great Ormond Street Institute of Child Health
London United Kingdom
Universidade de São Paulo
Sao Paulo Brazil
Universitair Ziekenhuis Gent
Ghent Belgium
Universitat Autònoma de Barcelona
Cerdanyola del Valles Spain
Universiteit van Amsterdam
Amsterdam Netherlands
Université Paris Cité
Paris France
Université Paris-Saclay
Gif-sur-Yvette France
Université Sorbonne Paris Cité
Paris France
University College London
London United Kingdom
University of California, San Diego
La Jolla United States
University of Health Sciences
Istanbul Turkey
University of Montreal
Montreal Canada
Washington University School of Medicine in St. Louis
St. Louis United States
Yale School of Medicine
New Haven United States
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Scimago Dergi (ISSN Eşleşmesi)
Journal of Experimental Medicine
Q1
SJR Skoru5,830
H-Index513
YayıncıRockefeller University Press
ÜlkeUnited States
Immunology (Q1)
Immunology and Allergy (Q1)
Medicine (miscellaneous) (Q1)
Metrikler
12
Atıf