CANLI
Yükleniyor Veriler getiriliyor…
SCI-Expanded JCR Q1 Özgün Makale Scopus
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Journal of Experimental Medicine 2024 Cilt 221
Scopus Eşleşmesi Bulundu
221
Cilt
🔓
Açık Erişim
Scopus Yazarları: Heather R. Jackson, Stephanie Hodeib, Dominic Habgood-Coote, Diego Estrada-Rivadeneyra, Yu Lung Lau, Elie Haddad, Sadiye Kubra Tuter Oz, Alexandre Belot, Emin Menentoglu, Yuriy Stepanovskiy, Jan Lebl, Lindsey Ann Edwards, Alexandre Bolze, Melissa Shea Hamilton, Jihoon Kim, Jane C. Burns, Michael Levin, Dilys Santillo, Yoann Seeleuthner, Sophya Yeoh, Giselle D’Souza, Stejara A. Netea, Marisol Holanda Pena, Jean Louis Mége, Gulsum Alkan, Alla Volokha, Yasemin Kendir-Demirkol, Betul Sözeri, Taner Coskuner, Aysun Yahsi, Belgin Gulhan, Saliha Kanik-Yuksek, Vincent Barlogis, Marketa Bloomfield, Fatma Nur Öz, Mark Peters, Jethro A. Herberg, Taco W. Kuijpers, Pierre Vantourout, Estelle Talouarn, Sobia Mustafa, Victoria J. Wright, Antonio Condino-Neto, Frédéric Rieux-Laucat, Charles Edouard Luyt, Filomeen Haerynck, Samya Chakravorty, Sevgi Keles, Aslinur Ozkaya-Parlakay, Tayfun Ozcelik, Esra Sevketoglu, Cyril Cyrus, Jiří Fremuth, Michael J. Carter, Rebeca Pérez de Diego, Mahdad Noursadeghi, Erica G. Schmitt, Agusti Rodriguez-Palmero, Aurora Pujol, Laurent Abel, Vanessa Sancho-Shimizu, Evangelos Bellos, Henry Hearn, Oliver Powell, Leire Estramiana Elorrieta, Kirsten B. Dummer, Julie Toubiana, Marie Paule Morin, Melike Emiroglu, Sefika Elmas Bozdemir, Osman Yesilbas, Emilie Chopin, Zeynep Gokce Gayretli Aydin, Anastasiia Bondarenko, Amyrath Geraldo, Myrsini Kaforou, Aurélie Cobat, Amedine Duret, Harsita Patel, Samuel Nichols, Adriana H. Tremoulet, Esmeralda Núñez Cuadros, Özge Metin Akcan, Guillaume Morelle, Gulsum Iclal Bayhan, Nevin Hatipoglu, Suzan A. AlKhater, Meltem Polat, Emmanuelle Jouanguy, Paul Wellman, Christopher Chiu, Chisato Shimizu, Shen Ying Zhang, Jean Laurent Casanova, Adrian C. Hayday
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.
Anahtar Kelimeler (Scopus)
Human disease genetics Infectious disease and host defense Innate immunity and inflammation

Anahtar Kelimeler

Human disease genetics Infectious disease and host defense Innate immunity and inflammation

Makale Bilgileri

Dergi Journal of Experimental Medicine
ISSN 0022-1007
Yıl 2024 / 11. ay
Cilt / Sayı 221
Makale Türü Özgün Makale
Hakemlik Hakemli
Endeks SCI-Expanded
JCR Quartile Q1
Yayın Dili Türkçe
Kapsam Uluslararası
Toplam Yazar 763 kişi
Erişim Türü Basılı+Elektronik
Erişim Linki Makaleye Git
Alan Sağlık Bilimleri Temel Alanı Çocuk Enfeksiyon Hastalıkları (Çocuk Sağlığı ve Hastalıkları)

YÖKSİS Yazar Kaydı

Yazar Adı METİN AKCAN ÖZGE,KELEŞ SEVGİ,EMİROĞLU MELİKE,ALKAN GÜLSÜM,TÜTER ÖZ ŞADİYE KÜBRA,ELMAS BOZDEMİR ŞEFİKA,KENDİR DEMİRKOL YASEMİN,SÖZERİ BETÜL,COSKUNER TANER,YAHŞİ AYSUN,GÜLHAN BELGİN,KANIK YÜKSEK SALİHA,BAYHAN GÜLSÜM İCLAL,ÖZKAYA PARLAKAY ASLI NUR,YEŞİLBAŞ OSMAN,HATİPOĞLU NEVİN,ÖZÇELİK HASAN TAYFUN,ŞEVKETOĞLU ESRA,MEMENTOGLU EMİN,GAYRETLİ AYDIN ZEYNEP GÖKÇE,ÖZ FATMANUR,POLAT MELTEM,ERDENİZ EMİNE HAFİZE,KARBUZ ADEM,TANIR GÖNÜL
YÖKSİS ID 8153370

Metrikler

JCR Quartile Q1
Yazar Sayısı 763