Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency

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dc.authorid0000-0002-4551-5433
dc.contributor.authorOgishi, Masato
dc.contributor.authorAugusto Arias, Andres
dc.contributor.authorYang, Rui
dc.contributor.authorHan, Ji Eun
dc.contributor.authorZhang, Peng
dc.contributor.authorRinchai, Darawan
dc.contributor.authorHalpern, Joshua
dc.contributor.authorMulwa, Jeanette
dc.contributor.authorKeating, Narelle
dc.contributor.authorChrabieh, Maya
dc.contributor.authorLaine, Candice
dc.contributor.authorSeeleuthner, Yoann
dc.contributor.authorRamirez-Alejo, Noe
dc.contributor.authorNekooie-Marnany, Nioosha
dc.contributor.authorGuennoun, Andrea
dc.contributor.authorMuller-Fleckenstein, Ingrid
dc.contributor.authorFleckenstein, Bernhard
dc.contributor.authorKılıç, Sara Şebnem
dc.contributor.authorMinegishi, Yoshiyuki
dc.contributor.authorEhl, Stephan
dc.contributor.authorKaiser-Labusch, Petra
dc.contributor.authorKendir-Demirkol, Yasemin
dc.contributor.authorRozenberg, Flore
dc.contributor.authorErrami, Abderrahmane
dc.contributor.authorZhang, Shen-Ying
dc.contributor.authorZhang, Qian
dc.contributor.authorBohlen, Jonathan
dc.contributor.authorPuel, Anne
dc.contributor.authorJouanguy, Emmanuelle
dc.contributor.authorPourmoghaddas, Zahra
dc.contributor.authorBakhtiar, Shahrzad
dc.contributor.authorWillasch, Andre M.
dc.contributor.authorHorneff, Gerd
dc.contributor.authorLlanora, Genevieve
dc.contributor.authorShek, Lynette P.
dc.contributor.authorChai, Louis Y. A.
dc.contributor.authorTay, Sen Hee
dc.contributor.authorRahimi, Hamid H.
dc.contributor.authorMahdaviani, Seyed Alireza
dc.contributor.authorNepesov, Serdar
dc.contributor.authorBousfiha, Aziz A.
dc.contributor.authorErdeniz, Emine Hafize
dc.contributor.authorKarbuz, Adem
dc.contributor.authorMarr, Nico
dc.contributor.authorNavarrete, Carmen
dc.contributor.authorAdeli, Mehdi
dc.contributor.authorHammarstrom, Lennart
dc.contributor.authorAbolhassani, Hassan
dc.contributor.authorParvaneh, Nima
dc.contributor.authorAl Muhsen, Saleh
dc.contributor.authorAlosaimi, Mohammed F.
dc.contributor.authorAlsohime, Fahad
dc.contributor.authorNourizadeh, Maryam
dc.contributor.authorMoin, Mostafa
dc.contributor.authorArnaout, Rand
dc.contributor.authorAlshareef, Saad
dc.contributor.authorEl-Baghdadi, Jamila
dc.contributor.authorGenel, Ferah
dc.contributor.authorSherkat, Roya
dc.contributor.authorKıykım, Ayça
dc.contributor.authorYücel, Esra
dc.contributor.authorKeleş, Sevgi
dc.contributor.authorBustamante, Jacinta
dc.contributor.authorAbel, Laurent
dc.contributor.authorCasanova, Jean-Laurent
dc.contributor.authorBoisson-Dupuis, Stephanie
dc.date.accessioned2022-12-22T11:09:08Z
dc.date.available2022-12-22T11:09:08Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractHuman cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-alpha/beta (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying mycobacterial diseases). Cells homozygous for the common P1104A TYK2 allele have selectively impaired responses to IL-23 (underlying isolated mycobacterial disease). We report three new forms of TYK2 deficiency in six patients from five families homozygous for rare TYK2 alleles (R864C, G996R, G634E, or G1010D) or compound heterozygous for P1104A and a rare allele (A928V). All these missense alleles encode detectable proteins. The R864C and G1010D alleles are hypomorphic and loss-of-function (LOF), respectively, across signaling pathways. By contrast, hypomorphic G996R, G634E, and A928V mutations selectively impair responses to IL-23, like P1104A. Impairment of the IL-23-dependent induction of IFN-gamma is the only mechanism of mycobacterial disease common to patients with complete TYK2 deficiency with or without TYK2 expression, partial TYK2 deficiency across signaling pathways, or rare or common partial TYK2 deficiency specific for IL-23 signaling.
dc.description.sponsorshipANRS Nord-Sud ; CIBSS ; CODI ; Comité para el Desarrollo de la Investigación ; Fulbright Future Scholarshipen_US
dc.identifier.citationOgishi, M., Augusto A., A., Yang, R., Han, J. E., Zhang, P., Rinchai, D. ... Boisson-Dupuis, S. (2022). Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency. Journal of Experimental Medicine, 219(10). https://doi.org/10.1084/jem.20220094
dc.identifier.doi10.1084/jem.20220094
dc.identifier.issn0022-1007
dc.identifier.issn1540-9538
dc.identifier.issue10
dc.identifier.pmid36094518
dc.identifier.scopus2-s2.0-85136160433
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://doi.org/10.1084/jem.20220094
dc.identifier.urihttps://hdl.handle.net/20.500.12511/10166
dc.identifier.volume219
dc.identifier.wos000892570400001en_US
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorNepesov, Serdar
dc.language.isoen
dc.publisherRockefeller University Press
dc.relation.ispartofJournal of Experimental Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsAttribution 4.0 International*
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subjectImmunodeficiency
dc.subjectTYK2
dc.subjectHuman Cells
dc.titleImpaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency
dc.typeArticle

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