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Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Nature 2023 Cilt 623
Scopus Eşleşmesi Bulundu
95
Atıf
623
Cilt
803-813
Sayfa
🔓
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.
Web of Science Eşleşmesi Bulundu
66
WoS Atıf
623
Cilt
Article
Belge Türü
Kaynak: NATURE · s. 803-813

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Scimago Dergi Bilgisi Otomatik ISSN Eşleştirmesi 2023 yılı verileri
Nature
Q1
SJR Quartile
18,509
SJR Skoru
1442
H-Index
Kategoriler: Multidisciplinary (Q1)
Alanlar: Multidisciplinary
Ülke: United Kingdom · Nature Research
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Makale Bilgileri

Dergi Nature
ISSN 0028-0836
Yıl 2023 / 11. ay
Cilt / Sayı 623
Makale Türü Özgün Makale
Hakemlik Hakemli
Endeks SCI-Expanded
JCR Quartile Q1
Teşvik Puanı 0,08 · YÖKSİS Akademik Teşvik
Yayın Dili İngilizce
Kapsam Uluslararası
Toplam Yazar 224 kişi
Erişim Türü Basılı+Elektronik
Alan Sağlık Bilimleri Temel Alanı Tıbbi Genetik

YÖKSİS Yazar Kaydı

Yazar Adı Le Voyer Tom, Parent Audrey V., Liu Xian, Cederholm Axel, Gervais Adrian, Rosain Jérémie, Nguyen Tina, Lorenzo Malena Perez, Rackaityte Elze, Rinchai Darawan, Zhang Peng, Bizie Lucy, Hancioglu Gonca, Ghillani-Dalbin Pascale, Charuel Jean-Luc, Philippot Quentin, Gueye Mame Sokhna, Renkilaraj Majistor Raj Luxman Maglorius, Ogishi Masato, Soudée Camille, Migaud Mélanie, Rozenberg Flore, Momenilandi Mana, Riller Quentin, Imberti Luisa, Delmonte Ottavia M., Müller Gabriele, Keller Baerbel, Orrego Julio, Gallego William Alexander Franco, Rubin Tamar, Emiroglu Melike, Parvaneh Nima, Eriksson Daniel, Aranda-Guillen Maribel, Berrios David I., Vong Linda, Katelaris Connie H., Mustillo Peter, Rädler Johannes, Bohlen Jonathan, Celik Jale Bengi, Astudillo Camila, Winter Sarah, Abel Laurent, Aiuti Alessandro, Al-Muhsen Saleh, Al-Mulla Fahd, Anderson Mark S, Andreako Evangelos, Arias Andrés A., Feldman Hagit Baris, Bustard Paul, Belot Alexandre, Bondarenko Anastasia, Borghesi Alessandro, Bousfiha Ahmed A., Brodin Petter, Bryceson Yenan, Casanova Jean-Laurent, Casari Giorgio, Christodoulou John, Cobat Aurélie, Colobran Roger, Condino-Neto Antonio, Fellay Jacques, Flores Carlos, Franco José Luis, Grimbache Bodo, Haerynck Filomeen, Halwani Rabih, Hammarström Lennart, Heath James R., Hsieh Elena W. Y., Itan Yuval, Jouanguy Emmanuelle, Kaja Elżbieta, Kisand Kai, Ku Cheng-Lung, Ling Yun, Lau Yu-Lung, Mansouri Davood, Mansouri Davood, Meyts Isabelle, Milner Joshua D., Mogensen Trine H., Notarangelo Luigi D., Novelli Antonio, Novelli Giuseppe, Okada Satoshi, Okamoto Keisuke, Ozcelik Tayfun, Pan-Hammarström Qiang, Perez de Diego Rebeca, Perez-Tur Jordi, Perlin David S., Prando Carolina, Puel Anne, Pujol Aurora, Quintana-Murci Lluis, Renia Laurent, Resnick Igor, Rodríguez-Gallego Carlos, Sancho-Shimizu Vanessa, Sediva Anna, Seppänen Mikko R. J., Shahrooei Mohammed, Shcherbina Anna, Palacín Pere Soler, Pesole Graziano, Spaan András N., Su Helen C., Tancevski Ivan, Tangye Stuart G., Abou Tayoun Ahmad, Amara Ali, Gorochov Guy, TEMEL ŞEHİME GÜLSÜN, Thorball Christian, Tiberghien Pierre, Trouillet-Assant Sophie, Turvey Stuart, Uddin K. M. Furkan, Uddin Mohammed J., van de Beek Diederik, Midigal Mateus, Vinh Donald C., Bernuth Horst von, Wauters Joost, Zatz Mayana, Zhang Qian, Zhang Shen-Ying
YÖKSİS ID 7368141

Metrikler

Scopus Atıf 95
Havuz Atıfları 0
JCR Quartile Q1
Teşvik Puanı 0,08
Yazar Sayısı 224