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

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 ?-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 ?-HPV and EBV.

SUBMITTER: Youssefian L

PROVIDER: S-EPMC7317279 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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

Youssefian Leila L Vahidnezhad Hassan H Yousefi Mehdi M Saeidian Amir Hossein AH Azizpour Arghavan A Touati Andrew A Nikbakht Neda N Hesari Kambiz Kamyab- KK Adib-Sereshki Mohammad Mahdi MM Zeinali Sirous S Mansoori Behzad B Jazayeri Ali A Karamzadeh Razieh R Fortina Paolo P Jouanguy Emmanuelle E Casanova Jean-Laurent JL Uitto Jouni J

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 20190501 11

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. ...[more]

PMID: 30778533

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Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency.

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