Scopus
🔓 Açık Erişim YÖKSİS Eşleşti
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Journal of Experimental Medicine · Aralık 2024
YÖKSİS Kayıtları
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Journal of Experimental Medicine · 2024 SCI-Expanded
DOÇENT MELİKE EMİROĞLU →
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Journal of Experimental Medicine · 2024 SCI-Expanded
DOÇENT GÜLSÜM ALKAN →
Makale Bilgileri
DergiJournal of Experimental Medicine
Yayın TarihiAralık 2024
Cilt / Sayfa221
Scopus ID2-s2.0-85210466949
Erişim🔓 Açık Erişim
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.
Yazarlar (95)
1
Evangelos Bellos
ORCID: 0000-0002-3389-5715
2
Dilys Santillo
ORCID: 0009-0004-3966-4952
3
Pierre Vantourout
ORCID: 0000-0001-7287-5517
4
Heather R. Jackson
ORCID: 0000-0002-1054-9983
5
Amedine Duret
ORCID: 0000-0002-5810-2195
6
Henry Hearn
ORCID: 0000-0001-8424-2194
7
Yoann Seeleuthner
ORCID: 0000-0002-1878-8567
8
Estelle Talouarn
ORCID: 0000-0002-5016-0446
9
Stephanie Hodeib
ORCID: 0000-0002-5978-6189
10
Harsita Patel
ORCID: 0000-0002-7533-7965
11
Oliver Powell
ORCID: 0000-0002-5140-0501
12
Sophya Yeoh
ORCID: 0009-0003-2390-9591
13
Sobia Mustafa
ORCID: 0009-0004-6890-5831
14
Dominic Habgood-Coote
ORCID: 0000-0001-5501-0335
15
Samuel Nichols
ORCID: 0000-0001-6737-0610
16
Leire Estramiana Elorrieta
ORCID: 0000-0001-5066-4284
17
Giselle D’Souza
ORCID: 0000-0002-1020-7529
18
Victoria J. Wright
ORCID: 0000-0001-7826-1516
19
Diego Estrada-Rivadeneyra
ORCID: 0000-0003-2512-7131
20
Adriana H. Tremoulet
ORCID: 0000-0001-9537-175X
21
Kirsten B. Dummer
ORCID: 0000-0001-9484-4770
22
Stejara A. Netea
ORCID: 0000-0002-3495-4705
23
Antonio Condino-Neto
ORCID: 0000-0002-1069-3117
24
Yu Lung Lau
ORCID: 0000-0002-4780-0289
25
Esmeralda Núñez Cuadros
ORCID: 0000-0003-1938-1678
26
Julie Toubiana
ORCID: 0000-0001-9561-669X
27
Marisol Holanda Pena
ORCID: 0000-0001-8868-8601
28
Frédéric Rieux-Laucat
ORCID: 0000-0001-7858-7866
29
Charles Edouard Luyt
ORCID: 0000-0001-7424-2705
30
Filomeen Haerynck
ORCID: 0000-0001-9161-7361
31
Jean Louis Mége
ORCID: 0000-0002-0394-4651
32
Samya Chakravorty
ORCID: 0000-0002-0236-3281
33
Elie Haddad
ORCID: 0000-0003-2446-6879
34
Marie Paule Morin
ORCID: 0000-0003-1358-6429
35
Özge Metin Akcan
ORCID: 0000-0002-3465-6994
36
Sevgi Keles
37
Melike Emiroglu
ORCID: 0000-0003-1307-0246
38
Gulsum Alkan
ORCID: 0000-0003-3384-769X
39
Sadiye Kubra Tuter Oz
ORCID: 0000-0002-2473-5672
40
Sefika Elmas Bozdemir
ORCID: 0000-0003-1058-0320
41
Guillaume Morelle
ORCID: 0000-0001-6511-1674
42
Alla Volokha
ORCID: 0000-0003-3092-2228
43
Yasemin Kendir-Demirkol
ORCID: 0000-0001-8016-5224
44
Betul Sözeri
ORCID: 0000-0002-5079-5644
45
Taner Coskuner
ORCID: 0000-0001-7844-3387
46
Aysun Yahsi
47
Belgin Gulhan
ORCID: 0000-0003-0839-1301
48
Saliha Kanik-Yuksek
ORCID: 0000-0002-2538-2872
49
Gulsum Iclal Bayhan
ORCID: 0000-0002-1423-4348
50
Aslinur Ozkaya-Parlakay
ORCID: 0000-0001-5691-2461
51
Osman Yesilbas
52
Nevin Hatipoglu
53
Tayfun Ozcelik
ORCID: 0000-0001-5937-1082
54
Alexandre Belot
ORCID: 0000-0003-4902-5332
55
Emilie Chopin
ORCID: 0009-0008-4270-1127
56
Vincent Barlogis
ORCID: 0000-0001-9645-3968
57
Esra Sevketoglu
58
Emin Menentoglu
ORCID: 0000-0003-3839-4722
59
Zeynep Gökçe Gayretli Aydın
60
Marketa Bloomfield
ORCID: 0000-0001-5330-9341
61
Suzan A. AlKhater
ORCID: 0000-0001-7315-6581
62
Cyril Cyrus
ORCID: 0000-0001-7333-6486
63
Yuriy Stepanovskiy
ORCID: 0000-0001-6339-5490
64
Anastasiia Bondarenko
ORCID: 0000-0002-9737-2868
65
Fatma Nur Öz
ORCID: 0000-0001-8374-095X
66
Meltem Polat
ORCID: 0000-0002-4608-1286
67
Jiří Fremuth
ORCID: 0000-0002-0258-9408
68
Jan Lebl
ORCID: 0000-0002-3365-5375
69
Amyrath Geraldo
ORCID: 0009-0005-9238-4447
70
Emmanuelle Jouanguy
ORCID: 0000-0002-7358-9157
71
Michael J. Carter
ORCID: 0000-0003-3403-4746
72
Paul Wellman
ORCID: 0000-0001-6404-1758
73
Mark Peters
ORCID: 0000-0003-3653-4808
74
Rebeca Pérez de Diego
ORCID: 0000-0001-8426-8765
75
Lindsey Ann Edwards
ORCID: 0000-0002-8222-4555
76
Christopher Chiu
ORCID: 0000-0003-0914-920X
77
Mahdad Noursadeghi
ORCID: 0000-0002-4774-0853
78
Alexandre Bolze
ORCID: 0000-0001-7399-2766
79
Chisato Shimizu
ORCID: 0000-0002-3149-2699
80
Myrsini Kaforou
ORCID: 0000-0001-9878-4007
81
Melissa Shea Hamilton
ORCID: 0000-0001-6308-0253
82
Jethro A. Herberg
ORCID: 0000-0001-6941-6491
83
Erica G. Schmitt
ORCID: 0000-0001-8878-0619
84
Agusti Rodriguez-Palmero
ORCID: 0000-0002-4141-5515
85
Aurora Pujol
ORCID: 0000-0002-9606-0600
86
Jihoon Kim
ORCID: 0000-0002-5351-238X
87
Aurélie Cobat
ORCID: 0000-0001-7209-6257
88
Laurent Abel
ORCID: 0000-0001-7016-6493
89
Shen Ying Zhang
ORCID: 0000-0002-9449-3672
90
Jean Laurent Casanova
ORCID: 0000-0002-7782-4169
91
Taco W. Kuijpers
ORCID: 0000-0002-7421-3370
92
Jane C. Burns
ORCID: 0000-0001-5679-1217
93
Michael Levin
ORCID: 0000-0003-2767-6919
94
Adrian C. Hayday
ORCID: 0000-0002-9495-5793
95
Vanessa Sancho-Shimizu
ORCID: 0000-0002-3519-0727
Anahtar Kelimeler
Human disease genetics
Infectious disease and host defense
Innate immunity and inflammation
Kurumlar
Aix Marseille Université
Marseille France
Ankara City Hospital
Ankara Turkey
Ankara Yildirim Beyazit University
Ankara Turkey
Bilkent Üniversitesi
Ankara Turkey
Bristol-Myers Squibb
New York 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
San Mateo 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
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
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
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