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A New Patient with Inherited TYK2 Deficiency

  • Shokouh Azam Sarrafzadeh
  • Maryam Mahloojirad
  • Jean-Laurent Casanova
  • Mohsen Badalzadeh
  • Jacinta Bustamante
  • Stephanie Boisson-Dupuis
  • Zahra Pourpak
  • Maryam NourizadehEmail author
  • Mostafa Moin
Letter to Editor
  • 94 Downloads

Introduction

Complete TYK2 deficiency (IMMUNODEFICIENCY 35 OMIM (611521)) is a rare disorder, inherited as an autosomal recessive (AR) trait, which has been previously described in nine patients from seven unrelated kindreds [1, 2, 3]. It was first reported in a Japanese patient with mycobacterial and viral disease associated with hyper IgE syndrome [1]. Later, investigation of five more families with complete AR TYK2 deficiency showed that the main clinical phenotype of the patients was mycobacterial and/or viral disease without hyper IgE syndrome [2]. In addition, another patient with some features of hyper IgE (eczema, skin abscesses, respiratory infections and IgE levels > 1000 IU/ml) and TYK2 deficiency was described [3]. TYK2 is a member of the Janus kinase family (JAK1, 2, 3, and TYK2) that plays a significant role in signaling receptors of group 1 and 2 of cytokines, namely IL-10, IL-12, IL-23, and IFN-α/β. Briefly, attachment of the ligand to the cytokine receptor induces...

Notes

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 Information

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.

Compliance with Ethical Standards

Conflict of Interest

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.

Informed Consent

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

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Shokouh Azam Sarrafzadeh
    • 1
  • Maryam Mahloojirad
    • 1
  • Jean-Laurent Casanova
    • 2
    • 3
    • 4
    • 5
    • 6
  • Mohsen Badalzadeh
    • 1
  • Jacinta Bustamante
    • 2
    • 3
    • 6
    • 7
  • Stephanie Boisson-Dupuis
    • 2
    • 3
    • 6
  • Zahra Pourpak
    • 1
  • Maryam Nourizadeh
    • 1
    Email author
  • Mostafa Moin
    • 1
  1. 1.Immunology, Asthma and Allergy Research Institute (IAARI), Tehran University of Medical SciencesTehranIran
  2. 2.Laboratory of Human Genetics of Infectious Diseases, Necker BranchInstitut National de la Santé et de la Recherche MédicaleParisFrance
  3. 3.Imagine InstituteParis UniversityParisFrance
  4. 4.Pediatric Hematology-Immunology Unit, Necker Hospital for Sick ChildrenAP-HPParisFrance
  5. 5.Howard Hughes Medical InstituteNew YorkUSA
  6. 6.St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller branchThe Rockefeller UniversityNew YorkUSA
  7. 7.Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick ChildrenAP-HPParisFrance

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