Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases - Archive ouverte HAL
Article Dans Une Revue Journal of Experimental Medicine Année : 2024

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

Jérémie Rosain (1) , Tom Le Voyer , Xian Liu , Adrian Gervais , Laura Polivka , Axel Cederholm , Laureline Berteloot , Audrey V Parent , Alessandra Pescatore , Ezia Spinosa , Snezana Minic , Ana Elisa Kiszewski , Miyuki Tsumura , Chloé Thibault , Maria Esnaola Azcoiti , Jelena Martinovic , Quentin Philippot , Taushif Khan , Astrid Marchal , Bénédicte Charmeteau-de Muylder , Lucy Bizien , Caroline Deswarte , Lillia Hadjem , Marie-Odile Fauvarque (2) , Karim Dorgham , Daniel Eriksson , Emilia Liana Falcone , Mathilde Puel , Sinem Ünal , Amyrath Geraldo , Corentin Le Floc’h , Hailun Li , Sylvie Rheault , Christine Muti , Claire Bobrie-Moyrand , Anne Welfringer-Morin , Ramsay L Fuleihan , Romain Lévy , Marie Roelens , Liwei Gao , Marie Materna , Silvia Pellegrini , Lorenzo Piemonti , Emilie Catherinot , Jean-Christophe Goffard , Arnaud Fekkar , Aissata Sacko-Sow , Camille Soudée , Soraya Boucherit , Anna-Lena Neehus , Cristina Has , Stefanie Hübner , Géraldine Blanchard-Rohner , Blanca Amador-Borrero , Takanori Utsumi , Maki Taniguchi , Hiroo Tani , Kazushi Izawa , Takahiro Yasumi , Sotaro Kanai , Mélanie Migaud , Mélodie Aubart , Nathalie Lambert , Guy Gorochov , Capucine Picard , Claire Soudais , Anne-Sophie L’honneur , Flore Rozenberg , Joshua D Milner , Shen-Ying Zhang , Pierre Vabres , Dusan Trpinac , Nico Marr , Nathalie Boddaert , Isabelle Desguerre , Manolis Pasparakis , Corey N Miller , Cláudia S Poziomczyk , Laurent Abel , Satoshi Okada , Emmanuelle Jouanguy , Rémi Cheynier , Qian Zhang , Aurélie Cobat , Vivien Béziat , Bertrand Boisson , Julie Steffann , Francesca Fusco , Matilde Valeria Ursini , Smail Hadj-Rabia , Christine Bodemer , Jacinta Bustamante , Hervé Luche , Anne Puel , Gilles Courtois , Paul Bastard , Nils Landegren , Mark S Anderson , Jean-Laurent Casanova
Tom Le Voyer
Xian Liu
Adrian Gervais
Laura Polivka
Axel Cederholm
Laureline Berteloot
Audrey V Parent
Alessandra Pescatore
Ezia Spinosa
Snezana Minic
Ana Elisa Kiszewski
Miyuki Tsumura
Chloé Thibault
Maria Esnaola Azcoiti
Jelena Martinovic
Quentin Philippot
Taushif Khan
Astrid Marchal
Bénédicte Charmeteau-de Muylder
Lucy Bizien
Caroline Deswarte
Lillia Hadjem
Marie-Odile Fauvarque
Karim Dorgham
Daniel Eriksson
Emilia Liana Falcone
Mathilde Puel
Sinem Ünal
Amyrath Geraldo
Corentin Le Floc’h
Hailun Li
Sylvie Rheault
Christine Muti
Claire Bobrie-Moyrand
Anne Welfringer-Morin
Ramsay L Fuleihan
Romain Lévy
Marie Roelens
Liwei Gao
Marie Materna
Silvia Pellegrini
Lorenzo Piemonti
Emilie Catherinot
Jean-Christophe Goffard
Arnaud Fekkar
Aissata Sacko-Sow
Camille Soudée
Soraya Boucherit
Anna-Lena Neehus
Cristina Has
Stefanie Hübner
Géraldine Blanchard-Rohner
Blanca Amador-Borrero
Takanori Utsumi
Maki Taniguchi
Hiroo Tani
Kazushi Izawa
Takahiro Yasumi
Sotaro Kanai
Mélanie Migaud
Mélodie Aubart
Nathalie Lambert
Guy Gorochov
Capucine Picard
Claire Soudais
Anne-Sophie L’honneur
Flore Rozenberg
Joshua D Milner
Shen-Ying Zhang
Pierre Vabres
Dusan Trpinac
Nico Marr
Nathalie Boddaert
Isabelle Desguerre
Manolis Pasparakis
Corey N Miller
Cláudia S Poziomczyk
Laurent Abel
Satoshi Okada
Emmanuelle Jouanguy
Rémi Cheynier
Qian Zhang
Aurélie Cobat
Vivien Béziat
Bertrand Boisson
Julie Steffann
Francesca Fusco
Matilde Valeria Ursini
Smail Hadj-Rabia
Christine Bodemer
Jacinta Bustamante
Hervé Luche
Anne Puel
Gilles Courtois
Paul Bastard
Nils Landegren
Mark S Anderson
Jean-Laurent Casanova
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Résumé

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.
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hal-04816078 , version 1 (03-12-2024)

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Jérémie Rosain, Tom Le Voyer, Xian Liu, Adrian Gervais, Laura Polivka, et al.. Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases. Journal of Experimental Medicine, 2024, 221 (11), ⟨10.1084/jem.20231152⟩. ⟨hal-04816078⟩
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