Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity - PubMed (original) (raw)
Case Reports
doi: 10.1016/j.immuni.2006.09.009.
Masako Saito, Tomohiro Morio, Ken Watanabe, Kazunaga Agematsu, Shigeru Tsuchiya, Hidetoshi Takada, Toshiro Hara, Nobuaki Kawamura, Tadashi Ariga, Hideo Kaneko, Naomi Kondo, Ikuya Tsuge, Akihiro Yachie, Yukio Sakiyama, Tsutomu Iwata, Fumio Bessho, Tsutomu Ohishi, Kosuke Joh, Kohsuke Imai, Kazuhiro Kogawa, Miwa Shinohara, Mikiya Fujieda, Hiroshi Wakiguchi, Srdjan Pasic, Mario Abinun, Hans D Ochs, Eleonore D Renner, Annette Jansson, Bernd H Belohradsky, Ayse Metin, Norio Shimizu, Shuki Mizutani, Toshio Miyawaki, Shigeaki Nonoyama, Hajime Karasuyama
Affiliations
- PMID: 17088085
- DOI: 10.1016/j.immuni.2006.09.009
Free article
Case Reports
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
Yoshiyuki Minegishi et al. Immunity. 2006 Nov.
Free article
Abstract
Tyrosine kinase 2 (Tyk2) is a nonreceptor tyrosine kinase that belongs to the Janus kinase (Jak) family. Here we identified a homozygous Tyk2 mutation in a patient who had been clinically diagnosed with hyper-IgE syndrome. This patient showed unusual susceptibility to various microorganisms including virus, fungi, and mycobacteria and suffered from atopic dermatitis with elevated serum IgE. The patient's cells displayed defects in multiple cytokine signaling pathways including those for type I interferon (IFN), interleukin (IL)-6, IL-10, IL-12, and IL-23. The cytokine signals were successfully restored by transducing the intact Tyk2 gene. Thus, the Tyk2 deficiency is likely to account for the patient's complex clinical manifestations, including the phenotype of impaired T helper 1 (Th1) differentiation and accelerated Th2 differentiation. This study identifies human Tyk2 deficiency and demonstrates that Tyk2 plays obligatory roles in multiple cytokine signals involved in innate and acquired immunity of humans, which differs substantially from Tyk2 function in mice.
Comment in
- The hyper IgE syndrome and mutations in TYK2.
Woellner C, Schäffer AA, Puck JM, Renner ED, Knebel C, Holland SM, Plebani A, Grimbacher B. Woellner C, et al. Immunity. 2007 May;26(5):535; author reply 536. doi: 10.1016/j.immuni.2007.05.007. Immunity. 2007. PMID: 17521577 No abstract available.
Similar articles
- Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency.
Minegishi Y, Karasuyama H. Minegishi Y, et al. Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):506-9. doi: 10.1097/ACI.0b013e3282f1baea. Curr Opin Allergy Clin Immunol. 2007. PMID: 17989526 Review. - Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency.
Minegishi Y, Karasuyama H. Minegishi Y, et al. Int Immunol. 2009 Feb;21(2):105-12. doi: 10.1093/intimm/dxn134. Epub 2008 Dec 15. Int Immunol. 2009. PMID: 19088064 Review. - Human tyk2 kinase deficiency: another primary immunodeficiency syndrome.
Watford WT, O'Shea JJ. Watford WT, et al. Immunity. 2006 Nov;25(5):695-7. doi: 10.1016/j.immuni.2006.10.007. Immunity. 2006. PMID: 17098200 Review. - Hyper-IgE syndrome.
Minegishi Y. Minegishi Y. Curr Opin Immunol. 2009 Oct;21(5):487-92. doi: 10.1016/j.coi.2009.07.013. Epub 2009 Aug 28. Curr Opin Immunol. 2009. PMID: 19717292 Review. - Severely impaired IL-12/IL-18/IFNgamma axis in patients with hyper IgE syndrome.
Netea MG, Kullberg BJ, van der Meer JW. Netea MG, et al. Eur J Clin Invest. 2005 Nov;35(11):718-21. doi: 10.1111/j.1365-2362.2005.01564.x. Eur J Clin Invest. 2005. PMID: 16269022
Cited by
- A sensitive assay for measuring whole-blood responses to type I IFNs.
Gervais A, Le Floc'h C, Le Voyer T, Bizien L, Bohlen J, Celmeli F, Al Qureshah F, Masson C, Rosain J, Chbihi M, Lévy R, Castagnoli R, Rothenbuhler A, Jouanguy E, Zhang Q, Zhang SY, Béziat V, Bustamante J, Puel A, Bastard P, Casanova JL. Gervais A, et al. Proc Natl Acad Sci U S A. 2024 Oct;121(40):e2402983121. doi: 10.1073/pnas.2402983121. Epub 2024 Sep 23. Proc Natl Acad Sci U S A. 2024. PMID: 39312669 Free PMC article. - Contradiction: Inhibiting inflammation and immunosuppression in the treatment of IBD.
Cao W, Xiong Y, Chen D. Cao W, et al. Proc Natl Acad Sci U S A. 2024 Sep 24;121(39):e2415439121. doi: 10.1073/pnas.2415439121. Epub 2024 Sep 16. Proc Natl Acad Sci U S A. 2024. PMID: 39284069 Free PMC article. No abstract available. - Sequential immunotherapy: towards cures for autoimmunity.
Ramírez-Valle F, Maranville JC, Roy S, Plenge RM. Ramírez-Valle F, et al. Nat Rev Drug Discov. 2024 Jul;23(7):501-524. doi: 10.1038/s41573-024-00959-8. Epub 2024 Jun 5. Nat Rev Drug Discov. 2024. PMID: 38839912 Review. - Inborn errors of immunity with susceptibility to S. aureus infections.
Kurz H, Lehmberg K, Farmand S. Kurz H, et al. Front Pediatr. 2024 Apr 24;12:1389650. doi: 10.3389/fped.2024.1389650. eCollection 2024. Front Pediatr. 2024. PMID: 38720948 Free PMC article. Review. - Tyrosine kinase 2 modulates splenic B cells through type I IFN and TLR7 signaling.
Bodega-Mayor I, Delgado-Wicke P, Arrabal A, Alegría-Carrasco E, Nicolao-Gómez A, Jaén-Castaño M, Espadas C, Dopazo A, Martín-Gayo E, Gaspar ML, de Andrés B, Fernández-Ruiz E. Bodega-Mayor I, et al. Cell Mol Life Sci. 2024 Apr 29;81(1):199. doi: 10.1007/s00018-024-05234-y. Cell Mol Life Sci. 2024. PMID: 38683377 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases