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Accès ouvert déclaré 2024 article

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

13Citations signalées — pas une note de qualité
82Institutions déclarées
19Pays d’affiliation déclarés

Résumé fourni par la source

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.

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Contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.

Titre Crossref
Heterozygous <i>BTNL8</i> variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Date Crossref
22/11/2024
Éditeur
Rockefeller University Press
Type
journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude et ne compte pas comme une seconde source scientifique indépendante.

Institutions déclarées

The London CollegeImperial College LondonRoyal College of Paediatrics and Child HealthKing's College LondonThe Francis Crick InstituteInsermUniversité Paris CitéHospital for Sick ChildrenInstitut des Maladies Génétiques ImagineUniversity of California San DiegoRady Children's Hospital-San DiegoEmma KinderziekenhuisAmsterdam University Medical CentersUniversity of AmsterdamUniversidade de São PauloInstitute of Biomedical ScienceQueen Mary HospitalUniversity of Hong KongInstituto de Investigación Biomédica de MálagaAssistance Publique – Hôpitaux de ParisMarqués de Valdecilla University HospitalDélégation Paris 5Sorbonne UniversitéPitié-Salpêtrière HospitalGhent University HospitalAix-Marseille UniversitéEmory UniversityBristol-Myers Squibb (Germany)Bristol-Myers Squibb (United States)Biocon (India)Syngene International (India)Centre Hospitalier Universitaire Sainte-JustineUniversité de MontréalNecmettin Erbakan UniversitySelçuk UniversityUniversité Paris-SaclayBicêtre HospitalShupyk National Healthcare University of UkraineÜmraniye Eğitim ve Araştırma HastanesiSağlık Bilimleri ÜniversitesiUniversity of Health SciencesMemorial Ankara HospitalAnkara Yıldırım Beyazıt UniversityKaradeniz Technical UniversityUniversity of Health ScienceBakırköy Dr.Sadi Konuk Eğitim ve Araştırma HastanesiBilkent UniversityBeykent UniversityHôpital Femme Mère EnfantHospices Civils de LyonNational Center for Genetic Engineering and BiotechnologyCharles UniversityUniversity Hospital in MotolThomayer University HospitalKing Fahd Hospital of the UniversityImam Abdulrahman Bin Faisal UniversityEuropean UniversityInternational European UniversityMinistry of HealthGazi UniversityUniversity of New York in PragueUniversitat Autònoma de BarcelonaHoward Hughes Medical InstituteGreat Ormond Street HospitalSickKids FoundationUniversity College LondonRockefeller UniversityHospital La Paz Institute for Health ResearchSt Thomas' HospitalGuy's and St Thomas' NHS Foundation TrustEvelina London Children's HealthcareGreat Ormond Street Hospital for Children NHS Foundation TrustGuy's HospitalSanquinWashington University in St. LouisHelix (United States)Institute of Infection and ImmunityInstituto de Salud Carlos IIICentre for Biomedical Network Research on Rare DiseasesInstitució Catalana de Recerca i Estudis AvançatsInstitut d'Investigació Biomédica de BellvitgeYale University

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

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