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Inherited Interleukin 2-Inducible T-Cell (Itk) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma Publisher Pubmed



Youssefian L1, 2 ; Vahidnezhad H1, 4 ; Yousefi M5, 6 ; Saeidian AH1 ; Azizpour A7 ; Touati A1, 8 ; Nikbakht N1 ; Hesari KK9 ; Adibsereshki MM10 ; Zeinali S4, 11 ; Mansoori B12, 13 ; Jazayeri A14 ; Karamzadeh R15 ; Fortina P16 Show All Authors
Authors
  1. Youssefian L1, 2
  2. Vahidnezhad H1, 4
  3. Yousefi M5, 6
  4. Saeidian AH1
  5. Azizpour A7
  6. Touati A1, 8
  7. Nikbakht N1
  8. Hesari KK9
  9. Adibsereshki MM10
  10. Zeinali S4, 11
  11. Mansoori B12, 13
  12. Jazayeri A14
  13. Karamzadeh R15
  14. Fortina P16
  15. Jouanguy E17, 18, 19
  16. Casanova JL17, 18, 19, 20, 21
  17. Uitto J1
Show Affiliations
Authors Affiliations
  1. 1. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, United States
  2. 2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Iran
  3. 3. Thomas Jefferson University, Philadelphia, PA, United States
  4. 4. Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran
  5. 5. Department of Immunology, Faculty of Medicine, Tehran University of Medical Sciences, Iran
  6. 6. Drug Applied Research Center, Tabriz University of Medical Sciences, Iran
  7. 7. Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Iran
  8. 8. Drexel University, College of Medicine, Philadelphia, PA, United States
  9. 9. Department of Pathology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
  10. 10. Gastrointestinal and Liver Diseases Research Center, Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran
  11. 11. Kawsar Human Genetics Research Center, Tehran, Iran
  12. 12. Immunology Research Center, Tehran, Iran
  13. 13. Student Research Committee, Tabriz University of Medical Sciences, Iran
  14. 14. Department of Information Science, College of Computing and Informatics, Drexel University, Philadelphia, PA, United States
  15. 15. Department of Stem Cells, Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, Academic Center for Education, Culture and Research, Tehran, Iran
  16. 16. Cancer Genomics and Bioinformatics, Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, United States
  17. 17. St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, United States
  18. 18. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Hospital for Sick Children, France
  19. 19. Imagine Institute, Paris Descartes University, France
  20. 20. Howard Hughes Medical Institute, New York, NY, United States
  21. 21. Pediatric Hematology and Immunology Unit, Assistance Publique-Hopitaux de Paris, Necker Hospital for Sick Children, Paris, France

Source: Clinical Infectious Diseases Published:2019


Abstract

Biallelic mutations in the ITK gene cause a T-cell primary immunodeficiency with Epstein-Barr virus (EBV)-lymphoproliferative disorders. We describe a novel association of a homozygous ITK mutation with β-human papillomavirus (HPV)-positive epidermodysplasia verruciformis. Thus, loss of function in ITK can result in broad dysregulation of T-cell responses to oncogenic viruses, including β-HPV and EBV. © The Author(s) 2018. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved.