Ogishi, Masato ORCID: 0000-0003-2421-7389, Augusto Arias, Andres, Yang, Rui, Han, Ji Eun, Zhang, Peng ORCID: 0000-0002-6129-567X, Rinchai, Darawan ORCID: 0000-0001-8851-7730, Halpern, Joshua, Mulwa, Jeanette, Keating, Narelle, Chrabieh, Maya, Laine, Candice, Seeleuthner, Yoann, Ramirez-Alejo, Noe, Nekooie-Marnany, Nioosha, Guennoun, Andrea, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Kilic, Sara S., Minegishi, Yoshiyuki, Ehl, Stephan, Kaiser-Labusch, Petra, Kendir-Demirkol, Yasemin, Rozenberg, Flore, Errami, Abderrahmane, Zhang, Shen-Ying ORCID: 0000-0002-9449-3672, Zhang, Qian, Bohlen, Jonathan, Puel, Anne ORCID: 0000-0003-2603-0323, Jouanguy, Emmanuelle, Pourmoghaddas, Zahra, Bakhtiar, Shahrzad, Willasch, Andre M., Horneff, Gerd, Llanora, Genevieve, Shek, Lynette P., Chai, Louis Y. A., Tay, Sen Hee, Rahimi, Hamid H., Mahdaviani, Seyed Alireza, Nepesov, Serdar, Bousfiha, Aziz A., Erdeniz, Emine Hafize, Karbuz, Adem, Marr, Nico ORCID: 0000-0002-1927-7072, Navarrete, Carmen, Adeli, Mehdi, Hammarstrom, Lennart, Abolhassani, Hassan ORCID: 0000-0002-4838-0407, Parvaneh, Nima, Al Muhsen, Saleh, Alosaimi, Mohammed F., Alsohime, Fahad, Nourizadeh, Maryam, Moin, Mostafa, Arnaout, Rand, Alshareef, Saad, El-Baghdadi, Jamila, Genel, Ferah, Sherkat, Roya, Kiykim, Ayca ORCID: 0000-0001-5821-3963, Yucel, Esra, Keles, Sevgi, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent and Boisson-Dupuis, Stephanie (2022). Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency. J. Exp. Med., 219 (10). NEW YORK: ROCKEFELLER UNIV PRESS. ISSN 1540-9538

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Abstract

Human 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ogishi, MasatoUNSPECIFIEDorcid.org/0000-0003-2421-7389UNSPECIFIED
Augusto Arias, AndresUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yang, RuiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Han, Ji EunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhang, PengUNSPECIFIEDorcid.org/0000-0002-6129-567XUNSPECIFIED
Rinchai, DarawanUNSPECIFIEDorcid.org/0000-0001-8851-7730UNSPECIFIED
Halpern, JoshuaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mulwa, JeanetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Keating, NarelleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chrabieh, MayaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Laine, CandiceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seeleuthner, YoannUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ramirez-Alejo, NoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nekooie-Marnany, NiooshaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guennoun, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muller-Fleckenstein, IngridUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fleckenstein, BernhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kilic, Sara S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Minegishi, YoshiyukiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehl, StephanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kaiser-Labusch, PetraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kendir-Demirkol, YaseminUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rozenberg, FloreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Errami, AbderrahmaneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zhang, Shen-YingUNSPECIFIEDorcid.org/0000-0002-9449-3672UNSPECIFIED
Zhang, QianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bohlen, JonathanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Puel, AnneUNSPECIFIEDorcid.org/0000-0003-2603-0323UNSPECIFIED
Jouanguy, EmmanuelleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pourmoghaddas, ZahraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bakhtiar, ShahrzadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Willasch, Andre M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Horneff, GerdUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Llanora, GenevieveUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shek, Lynette P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chai, Louis Y. A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tay, Sen HeeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rahimi, Hamid H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mahdaviani, Seyed AlirezaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nepesov, SerdarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bousfiha, Aziz A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Erdeniz, Emine HafizeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Karbuz, AdemUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marr, NicoUNSPECIFIEDorcid.org/0000-0002-1927-7072UNSPECIFIED
Navarrete, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Adeli, MehdiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hammarstrom, LennartUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Abolhassani, HassanUNSPECIFIEDorcid.org/0000-0002-4838-0407UNSPECIFIED
Parvaneh, NimaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Al Muhsen, SalehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alosaimi, Mohammed F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alsohime, FahadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nourizadeh, MaryamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moin, MostafaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnaout, RandUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alshareef, SaadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
El-Baghdadi, JamilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Genel, FerahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sherkat, RoyaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kiykim, AycaUNSPECIFIEDorcid.org/0000-0001-5821-3963UNSPECIFIED
Yucel, EsraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Keles, SevgiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bustamante, JacintaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Abel, LaurentUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Casanova, Jean-LaurentUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boisson-Dupuis, StephanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-699142
DOI: 10.1084/jem.20220094
Journal or Publication Title: J. Exp. Med.
Volume: 219
Number: 10
Date: 2022
Publisher: ROCKEFELLER UNIV PRESS
Place of Publication: NEW YORK
ISSN: 1540-9538
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
INTERFERON-GAMMA; INBORN-ERRORS; IMMUNITY; IL-10; RECEPTOR; HUMANS; TUBERCULOSIS; MUTATIONS; INFECTION; DEFECTSMultiple languages
Immunology; Medicine, Research & ExperimentalMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/69914

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