Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases
| Title: | Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases |
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| Authors: | Rosain J.; Voyer T. L.; Liu X.; Gervais A.; Polivka L.; Cederholm A.; Berteloot L.; Parent A. V.; Pescatore A.; Spinosa E.; Minic S.; Kiszewski A. E.; Tsumura M.; Thibault C.; Azcoiti M. E.; Martinovic J.; Philippot Q.; Khan T.; Marchal A.; Muylder B. C. -D.; Bizien L.; Deswarte C.; Hadjem L.; Fauvarque M. -O.; Dorgham K.; Eriksson D.; Falcone E. L.; Puel M.; Unal S.; Geraldo A.; Floc'h C. L.; Li H.; Rheault S.; Muti C.; Bobrie-Moyrand C.; Welfringer-Morin A.; Fuleihan R. L.; Levy R.; Roelens M.; Gao L.; Materna M.; Pellegrini S.; Piemonti L.; Catherinot E.; Goffard J. -C.; Fekkar A.; Sacko-Sow A.; Soudee C.; Boucherit S.; Neehus A. -L.; Has C.; Hubner S.; Blanchard-Rohner G.; Amador-Borrero B.; Utsumi T.; Taniguchi M.; Tani H.; Izawa K.; Yasumi T.; Kanai S.; Migaud M.; Aubart M.; Lambert N.; Gorochov G.; Picard C.; Soudais C.; L'honneur A. -S.; Rozenberg F.; Milner J. D.; Zhang S. -Y.; Vabres P.; Trpinac D.; Marr N.; Boddaert N.; Desguerre I.; Pasparakis M.; Miller C. N.; Poziomczyk C. S.; Abel L.; Okada S.; Jouanguy E.; Cheynier R.; Zhang Q.; Cobat A.; Beziat V.; Boisson B.; Steffann J.; Fusco F.; Ursini M. V.; Hadj-Rabia S.; Bodemer C.; Bustamante J.; Luche H.; Puel A.; Courtois G.; Bastard P.; Landegren N.; Anderson M. S.; Casanova J. -L. |
| Contributors: | Rosain, J.; Voyer, T. L.; Liu, X.; Gervais, A.; Polivka, L.; Cederholm, A.; Berteloot, L.; Parent, A. V.; Pescatore, A.; Spinosa, E.; Minic, S.; Kiszewski, A. E.; Tsumura, M.; Thibault, C.; Azcoiti, M. E.; Martinovic, J.; Philippot, Q.; Khan, T.; Marchal, A.; Muylder, B. C. -D.; Bizien, L.; Deswarte, C.; Hadjem, L.; Fauvarque, M. -O.; Dorgham, K.; Eriksson, D.; Falcone, E. L.; Puel, M.; Unal, S.; Geraldo, A.; Floc'H, C. L.; Li, H.; Rheault, S.; Muti, C.; Bobrie-Moyrand, C.; Welfringer-Morin, A.; Fuleihan, R. L.; Levy, R.; Roelens, M.; Gao, L.; Materna, M.; Pellegrini, S.; Piemonti, L.; Catherinot, E.; Goffard, J. -C.; Fekkar, A.; Sacko-Sow, A.; Soudee, C.; Boucherit, S.; Neehus, A. -L.; Has, C.; Hubner, S.; Blanchard-Rohner, G.; Amador-Borrero, B.; Utsumi, T.; Taniguchi, M.; Tani, H.; Izawa, K.; Yasumi, T.; Kanai, S.; Migaud, M.; Aubart, M.; Lambert, N.; Gorochov, G.; Picard, C.; Soudais, C.; L'Honneur, A. -S.; Rozenberg, F.; Milner, J. D.; Zhang, S. -Y.; Vabres, P.; Trpinac, D.; Marr, N.; Boddaert, N.; Desguerre, I.; Pasparakis, M.; Miller, C. N.; Poziomczyk, C. S.; Abel, L.; Okada, S.; Jouanguy, E.; Cheynier, R.; Zhang, Q.; Cobat, A.; Beziat, V.; Boisson, B.; Steffann, J.; Fusco, F.; Ursini, M. V.; Hadj-Rabia, S.; Bodemer, C.; Bustamante, J.; Luche, H.; Puel, A.; Courtois, G.; Bastard, P.; Landegren, N.; Anderson, M. S.; Casanova, J. -L. |
| Publisher Information: | Rockefeller University Press |
| Publication Year: | 2024 |
| Description: | 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. |
| Document Type: | article in journal/newspaper |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/39352576; info:eu-repo/semantics/altIdentifier/wos/WOS:001326891400001; volume:221; issue:11; numberofpages:16; journal:JOURNAL OF EXPERIMENTAL MEDICINE; https://hdl.handle.net/20.500.11768/174317 |
| DOI: | 10.1084/jem.20231152 |
| Availability: | https://hdl.handle.net/20.500.11768/174317; https://doi.org/10.1084/jem.20231152; https://rupress.org/jem/article/221/11/e20231152/277003/Incontinentia-pigmenti-underlies-thymic-dysplasia |
| Rights: | info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: | edsbas.83D14DCD |
| Database: | BASE |