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Clin Infect Dis. 2019 Feb 19. pii: ciy942. doi: 10.1093/cid/ciy942. [Epub ahead of print]

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.

Author information

1
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.
2
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Iran.
3
Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, Pennsylvania.
4
Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran.
5
Department of Immunology, Faculty of Medicine, Tehran University of Medical Sciences, Iran.
6
Drug Applied Research Center, Tabriz University of Medical Sciences, Tehran University of Medical Sciences, Iran.
7
Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Iran.
8
Drexel University College of Medicine, Philadelphia, Pennsylvania.
9
Department of Pathology, Razi Hospital, Tehran University of Medical Sciences, Tehran.
10
Gastrointestinal and Liver Diseases Research Center, Firoozgar Hospital, Iran University of Medical Sciences, Tehran.
11
Kawsar Human Genetics Research Center, Tehran.
12
Immunology Research Center, Tehran.
13
Student Research Committee, Tabriz University of Medical Sciences, Iran.
14
Department of Information Science, College of Computing and Informatics, Drexel University, Philadelphia, Pennsylvania.
15
Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, Academic Center for Education, Culture and Research, Tehran, Iran.
16
Cancer Genomics and Bioinformatics, Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania.
17
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York.
18
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, France.
19
Imagine Institute, Paris Descartes University, France.
20
Howard Hughes Medical Institute, New York, New York.
21
Pediatric Hematology and Immunology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris, France.

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.

KEYWORDS:

EBV infection; ITK; epidermodysplasia verruciformis; human papillomavirus; immunodeficiency

PMID:
30778533
DOI:
10.1093/cid/ciy942

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