作者
Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, Marcela Moncada-Velez, Laura E Covill, Peng Zhang, Ilad Alavi Darazam, Paul Bastard, Lucy Bizien, Giorgia Bucciol, Sara Lind Enoksson, Emmanuelle Jouanguy, Şemsi Nur Karabela, Taushif Khan, Yasemin Kendir-Demirkol, Andres Augusto Arias, Davood Mansouri, Per Marits, Nico Marr, Isabelle Migeotte, Leen Moens, Tayfun Ozcelik, Isabelle Pellier, Anton Sendel, Sevtap Şenoğlu, Mohammad Shahrooei, CI Edvard Smith, Isabelle Vandernoot, Karen Willekens, Kadriye Kart Yaşar, Peter Bergman, Laurent Abel, Aurélie Cobat, Jean-Laurent Casanova, Isabelle Meyts, Yenan T Bryceson
发表日期
2022/6/7
期刊
Journal of Experimental Medicine
卷号
219
期号
7
页码范围
e20220202
出版商
Rockefeller University Press
简介
Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients’ fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of …
引用总数
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TM Campbell, Z Liu, Q Zhang, M Moncada-Velez… - Journal of Experimental Medicine, 2022