Scopus
🔓 Açık Erişim YÖKSİS Eşleşti
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Nature · Kasım 2023
YÖKSİS Kayıtları
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Nature · 2023 SCI-Expanded
PROFESÖR JALE BENGİ ÇELİK →
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Nature · 2023 SCI-Expanded
DOÇENT MELİKE EMİROĞLU →
Makale Bilgileri
DergiNature
Yayın TarihiKasım 2023
Cilt / Sayfa623 · 803-813
Scopus ID2-s2.0-85176091832
Erişim🔓 Açık Erişim
Özet
Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.
Yazarlar (100)
1
Tom Le Voyer
ORCID: 0000-0002-7253-3135
2
Audrey V. Parent
ORCID: 0000-0003-4506-6268
3
Xian Liu
4
Axel Cederholm
ORCID: 0009-0006-5973-9637
5
Adrian Gervais
6
Jérémie Rosain
7
Tina Nguyen
8
Malena Perez Lorenzo
ORCID: 0000-0002-7933-5211
9
Elze Rackaityte
ORCID: 0000-0003-3889-8082
10
Darawan Rinchai
11
Peng Zhang
12
Lucy Bizien
13
Gonca Hancioglu
ORCID: 0000-0003-4221-6232
14
Pascale Ghillani-Dalbin
15
Jean Luc Charuel
16
Quentin Philippot
17
Mame Sokhna Gueye
ORCID: 0000-0002-5533-7757
18
Majistor Raj Luxman Maglorius Renkilaraj
19
Masato Ogishi
20
Camille Soudee
21
Mélanie Migaud
22
Flore Rozenberg
23
Mana Momenilandi
24
Quentin Riller
ORCID: 0000-0003-3323-0235
25
Luisa Imberti
26
Ottavia M. Delmonte
27
Gabriele Müller
28
Baerbel Keller
29
Julio Orrego
30
William Alexander Franco Gallego
31
Tamar Rubin
32
Melike Emiroglu
ORCID: 0000-0003-1307-0246
33
Nima Parvaneh
ORCID: 0000-0002-3397-9716
34
Daniel Eriksson
35
Maribel Aranda-Guillen
ORCID: 0000-0003-0050-704X
36
David I. Berrios
37
Linda Vong
38
Constance H. Katelaris
ORCID: 0000-0002-4412-1336
39
Peter Mustillo
40
Johannes Raedler
ORCID: 0000-0003-0979-7274
41
Jonathan Bohlen
ORCID: 0000-0003-0458-9484
42
Jale Bengi Celik
43
Camila Astudillo
44
Sarah Winter
45
Stéphanie Boisson-Dupuis
46
Eric Oksenhendler
47
Satoshi Okada
48
Oana Caluseriu
49
Mathilde Valeria Ursini
50
Eric Ballot
51
Geoffroy Lafarge
52
Tomas Freiberger
53
Carlos A. Arango-Franco
54
Romain Lévy
55
Alessandro Aiuti
56
Saleh Zaid Al-Muhsen
57
Fahd Al-Mulla
58
Evangelos Andreakos
59
Andrés Augusto Arias
60
Hagit Baris Feldman
61
Paul Bastard
62
Anastasiia Bondarenko
ORCID: 0000-0002-9737-2868
63
Alessandro Borghesi
64
Ahmed A. Bousfiha
65
Petter Brodin
66
Yenan T. Bryceson
67
Giorgio Casari
68
John Christodoulou
69
Roger Colobran
70
Antonio Condino-Neto
ORCID: 0000-0002-1069-3117
71
Jacques Fellay
72
Carlos Flores
73
Jose Luis Franco
74
Filomeen Haerynck
ORCID: 0000-0001-9161-7361
75
Rabih Halwani
76
Lennart Hammarström
77
James R. Heath
78
Elena W.Y. Hsieh
79
Yuval Itan
80
Elżbieta Kaja
81
Kai Kisand
82
Cheng Lung Ku
83
Yun Ling
84
Yu Lung Lau
ORCID: 0000-0002-4780-0289
85
Davood Mansouri
86
Isabelle Meyts
87
Joshua D. Milner
88
Trine H. Mogensen
89
Antonio Novelli
90
Giuseppe Novelli
91
Keisuke Okamoto
92
Tayfun Ozcelik
ORCID: 0000-0001-5937-1082
93
Rebeca Pérez de Diego
ORCID: 0000-0001-8426-8765
94
Jordi Perez-Tur
95
David S. Perlin
96
Carolina Prando
97
Aurora Pujol
ORCID: 0000-0002-9606-0600
98
Lluis Quintana-Murci
99
Laurent Renia
100
Igor Resnick
Kurumlar
Aarhus Universitet
Aarhus Denmark
Academy of Athens
Athens Greece
Akademiska Sjukhuset
Uppsala Sweden
A-Star, Infectious Disease Lab
Singapore City Singapore
Bilkent Üniversitesi
Ankara Turkey
Center for Discovery and Innovation
Nutley United States
Centre Hospitalier Universitaire Ibn Rochd
Casablanca Morocco
Centre Hospitalier Universitaire Vaudois
Lausanne Switzerland
Centro de Investigación Biomédica en Red de Enfermedades Raras
Madrid Spain
Chang Gung University
Taoyuan Taiwan
Collège de France
Paris France
College of Medicine
Riyadh Saudi Arabia
Columbia University Irving Medical Center
New York United States
CSIC - Instituto de Biomedicina de Valencia (IBV)
Valencia Spain
Dasman Diabetes Institute
Dasman Kuwait
Departement Microbiologie, Immunologie en Transplantatie
Leuven Belgium
École Polytechnique Fédérale de Lausanne
Lausanne Switzerland
Faculdades Pequeno Príncipe
Curitiba Brazil
Facultad de Medicina Clinica Alemana Universidad del Desarrollo
Las Condes Chile
Fondazione IRCCS Policlinico San Matteo
Pavia Italy
Fudan University
Shanghai China
Garvan Institute of Medical Research
Sydney Australia
Hiroshima University Graduate School of Biomedical and Health Sciences
Hiroshima Japan
Hopital Cochin AP-HP
Paris France
Hôpital Necker Enfants Malades
Paris France
Hôpital Saint-Antoine
Paris France
Hôpital Saint-Louis
Paris France
Hôpital Universitaire Pitié Salpêtrière
Paris France
Hospital de Niños Roberto del Río
Santiago Chile
Hospital Universitario Nuestra Senora de Candelaria
Santa Cruz de Tenerife Spain
Icahn School of Medicine at Mount Sinai
New York United States
Inserm
Paris France
Institució Catalana de Recerca i Estudis Avançats
Barcelona Spain
Institut d'Investigació Biomedica de Bellvitge
Hospitalet de Llobregat Spain
Institute for Systems Biology
Seattle United States
Institute of Genetics and Biophysics Adriano Buzzati Traverso
Naples Italy
Institute of Science Tokyo
Tokyo Japan
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid Spain
Instituto Tecnológico y de Energías Renovables, S.A.
Granadilla de Abona Spain
IRCCS Ospedale Pediatrico Bambino Gesù
Rome Italy
IRCCS Ospedale San Raffaele
Milan Italy
Karolinska Institutet
Stockholm Sweden
Klinikum der Universität München
Munich Germany
KU Leuven– University Hospital Leuven
Leuven Belgium
Lee Kong Chian School of Medicine
Singapore City Singapore
Masaryk University
Brno Czech Republic
National Institute of Allergy and Infectious Diseases (NIAID)
Bethesda United States
Ondokuz Mayis University, Medical School
Samsun Turkey
Paris Cité University
Paris France
Poznan University of Medical Sciences
Poznan Poland
Rockefeller University
New York United States
Selçuk Tip Fakültesi
Konya Turkey
Shupyk National Healthcare University of Ukraine
Kyiv Ukraine
Sorbonne Université
Paris France
Tartu Ülikool
Tartu Estonia
Tehran University of Medical Sciences
Tehran Iran
Tel Aviv University
Tel Aviv-Yafo Israel
The Hospital for Sick Children
Toronto Canada
The Ohio State University College of Medicine
Columbus United States
The University of Hong Kong
Hong Kong Hong Kong
Universidad de Antioquia
Medellin Colombia
Universidade de São Paulo
Sao Paulo Brazil
Universidad Fernando Pessoa Canarias
Santa Maria de Guia de Gran Canaria Spain
Università degli Studi di Brescia
Brescia Italy
Università degli Studi di Roma "Tor Vergata"
Rome Italy
Universitair Ziekenhuis Gent
Ghent Belgium
Universitätsklinikum Freiburg
Freiburg im Breisgau Germany
Università Vita-Salute San Raffaele
Milan Italy
University Hospital St. Marina
Varna Bulgaria
University of Alberta, Faculty of Medicine and Dentistry
Edmonton Canada
University of California, San Francisco
San Francisco United States
University of Colorado School of Medicine
Aurora United States
University of Manitoba
Winnipeg Canada
University of Melbourne
Melbourne Australia
University of Sharjah
Sharjah United Arab Emirates
UNSW Medicine
Kensington Australia
Uppsala Universitet
Uppsala Sweden
Vall d'Hebron Institut de Recerca
Barcelona Spain
Western Sydney University
Penrith Australia
Metrikler
44
Atıf
100
Yazar