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A New Patient with Inherited TYK2 Deficiency

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References

  1. Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25(5):745–55.

    Article  CAS  Google Scholar 

  2. Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramirez-Alejo N, Kilic SS, et al. Human TYK2 deficiency: mycobacterial and viral infections without hyper-IgE syndrome. J Exp Med. 2015;212(10):1641–62.

    Article  CAS  Google Scholar 

  3. Fuchs S, Kaiser-Labusch P, Bank J, Ammann S, Kolb-Kokocinski A, Edelbusch C, et al. Tyrosine kinase 2 is not limiting human antiviral type III interferon responses. Eur J Immunol. 2016;46(11):2639–49.

    Article  CAS  Google Scholar 

  4. Watford WT, O'Shea JJ. Human tyk2 kinase deficiency: another primary immunodeficiency syndrome. Immunity. 2006;25(5):695–7.

    Article  CAS  Google Scholar 

  5. Martinez-Barricarte R, Markle JG. Human IFN-gamma immunity to mycobacteria is governed by both IL-12 and IL-23. Sci Immunol 2018;3(30):eaau6759.

  6. Zhang SY, Boisson-Dupuis S, Chapgier A, Yang K, Bustamante J, Puel A, et al. Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense. Immunol Rev. 2008;226:29–40.

    Article  CAS  Google Scholar 

  7. Rosain J, Kong XF, Martinez-Barricarte R, Oleaga-Quintas C, Ramirez-Alejo N, Markle J, et al. Mendelian susceptibility to mycobacterial disease: 2014-2018 update. Immunol Cell Biol. 2019;97(4):360–7.

    Article  Google Scholar 

  8. Boisson-Dupuis S, Ramirez-Alejo N. Tuberculosis and impaired IL-23-dependent IFN-gamma immunity in humans homozygous for a common TYK2 missense variant. Sci Immunol 2018;3(30):eaau8714.

  9. Khotaei GT, Sedighipour L, Fattahi F, Pourpak Z. Osteomyelitis as a late complication of Bacille Calmette-Guerin vaccination. J Microbiol Immunol Infect. 2006;39(2):169–72.

    PubMed  Google Scholar 

  10. Sarrafzadeh SA, Mahloojirad M, Nourizadeh M, Casanova JL, Pourpak Z, Bustamante J, et al. Mendelian susceptibility to mycobacterial disease due to IL-12Rbeta1 deficiency in three Iranian children. Iran J Public Health. 2016;45(3):370–5.

    PubMed  PubMed Central  Google Scholar 

  11. Casanova JL, Jouanguy E, Lamhamedi S, Blanche S, Fischer A. Immunological conditions of children with BCG disseminated infection. Lancet. 1995;346(8974):581.

    Article  CAS  Google Scholar 

  12. Casanova JL, Blanche S, Emile JF, Jouanguy E, Lamhamedi S, Altare F, et al. Idiopathic disseminated bacillus Calmette-Guerin infection: a French national retrospective study. Pediatrics. 1996;98(4 Pt 1):774–8.

    CAS  PubMed  Google Scholar 

  13. Poyhonen L, Bustamante J, Casanova JL, Jouanguy E, Zhang Q. Life-threatening infections due to live-attenuated vaccines: early manifestations of inborn errors of immunity. J Clin Immunol. 2019;39(4):376–90.

    Article  Google Scholar 

  14. Amanati A, Pouladfar G, Kadivar MR, Sanaei Dashti A, Jafarpour Z, Haghpanah S, et al. A 25-year surveillance of disseminated Bacillus Calmette-Guerin disease treatment in children in Southern Iran. Medicine. 2017;96(52):e9035.

    Article  Google Scholar 

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Acknowledgment

We would like to thank the patient and his family. We would like to appreciate Dr. Leila Moradi for her scientific suggestions and Dr. Nastaran Sabetkish for English editing of the manuscript.

Funding

This project has been granted and supported by Immunology, Asthma and Allergy Research Institute under the supervision of Tehran University of Medical Sciences (grant number 89-33-1/253-1), the National Institutes of Health (R37AI095983), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), the French National Research Agency under the “Investments for the future” program (ANR-10-IAHU-01), ANR-GENMSMD (ANR-16-CE17-0005-01), the St. Giles Foundation, the Rockefeller University, Howard Hughes Medical Institute, Institut National de la Santé et de la Recherche Médicale (INSERM), and Paris Descartes University.

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Correspondence to Maryam Nourizadeh.

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The authors declare that they have no conflict of interest.

Research Involving Human Participants

Informed consent for participation in this study was obtained in accordance with local regulations, with approval from the IRB.

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Written informed consent was obtained from the guardians of the patient.

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Sarrafzadeh, S.A., Mahloojirad, M., Casanova, JL. et al. A New Patient with Inherited TYK2 Deficiency . J Clin Immunol 40, 232–235 (2020). https://doi.org/10.1007/s10875-019-00713-5

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  • DOI: https://doi.org/10.1007/s10875-019-00713-5

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