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
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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