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The Journal of experimental medicine · 2024

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Rosain Jérémie, Le Voyer Tom, Liu Xian, Gervais Adrian, Polivka Laura, Cederholm Axel, Berteloot Laureline, Parent Audrey V, Pescatore Alessandra, Spinosa Ezia, Minic Snezana, Kiszewski Ana Elisa, Tsumura Miyuki, Thibault Chloé, Esnaola Azcoiti Maria, Martinovic Jelena, Philippot Quentin, Khan Taushif, Marchal Astrid, Charmeteau-De Muylder Bénédicte, Bizien Lucy, Deswarte Caroline, Hadjem Lillia, Fauvarque Marie-Odile, Dorgham Karim, Eriksson Daniel, Falcone Emilia Liana, Puel Mathilde, Ünal Sinem, Geraldo Amyrath, Le Floc'h Corentin, Li Hailun, Rheault Sylvie, Muti Christine, Bobrie-Moyrand Claire, Welfringer-Morin Anne, Fuleihan Ramsay L, Lévy Romain, Roelens Marie, Gao Liwei, Materna Marie, Pellegrini Silvia, Piemonti Lorenzo, Catherinot Emilie, Goffard Jean-Christophe, Fekkar Arnaud, Sacko-Sow Aissata, Soudée Camille, Boucherit Soraya, Neehus Anna-Lena, Has Cristina, Hübner Stefanie, Blanchard-Rohner Géraldine, Amador-Borrero Blanca, Utsumi Takanori, Taniguchi Maki, Tani Hiroo, Izawa Kazushi, Yasumi Takahiro, Kanai Sotaro, Migaud Mélanie, Aubart Mélodie, Lambert Nathalie, Gorochov Guy, Picard Capucine, Soudais Claire, L'Honneur Anne-Sophie, Rozenberg Flore, Milner Joshua D, Zhang Shen-Ying, Vabres Pierre, Trpinac Dusan, Marr Nico, Boddaert Nathalie, Desguerre Isabelle, Pasparakis Manolis, Miller Corey N, Poziomczyk Cláudia S, Abel Laurent, Okada Satoshi, Jouanguy Emmanuelle, Cheynier Rémi, Zhang Qian, Cobat Aurélie, Béziat Vivien, Boisson Bertrand, Steffann Julie, Fusco Francesca, Ursini Matilde Valeria, Hadj-Rabia Smail, Bodemer Christine, Bustamante Jacinta, Luche Hervé, Puel Anne, Courtois Gilles, Bastard Paul, Landegren Nils, Anderson Mark S, Casanova Jean-Laurent

Аннотация

Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pigmenti (IP), heterozygous for loss-of-function (LOF) NEMO variants, from 99 kindreds in 10 countries. Forty-seven of these patients (36%) have auto-Abs neutralizing IFN-α and/or IFN-ω, a proportion 23 times higher than that for age-matched female controls. This proportion remains stable from the age of 6 years onward. On imaging, female patients with IP have a small, abnormally structured thymus. Auto-Abs against type I IFNs confer a predisposition to life-threatening viral diseases. By contrast, patients with IP lacking auto-Abs against type I IFNs are at no particular risk of viral disease. These results suggest that IP accelerates thymic involution, thereby underlying the production of auto-Abs neutralizing type I IFNs in at least a third of female patients with IP, predisposing them to life-threatening viral diseases.

Предметные рубрики MeSH

HumansInterferon Type IFemaleAutoantibodiesThymus GlandChildIncontinentia PigmentiChild, PreschoolI-kappa B KinaseVirus DiseasesInfantAdultAdolescentYoung Adult