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

Clin Infect Dis. 2019 May 17;68(11):1938-1941. doi: 10.1093/cid/ciy942.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acitretin / therapeutic use
  • Adult
  • Alleles
  • Drug Therapy
  • Epidermodysplasia Verruciformis / drug therapy
  • Epidermodysplasia Verruciformis / genetics*
  • Epidermodysplasia Verruciformis / immunology
  • Epstein-Barr Virus Infections / complications
  • Epstein-Barr Virus Infections / immunology
  • Female
  • Genetic Association Studies
  • Hodgkin Disease / drug therapy
  • Hodgkin Disease / etiology*
  • Hodgkin Disease / immunology
  • Homozygote
  • Humans
  • Keratolytic Agents / therapeutic use
  • Loss of Function Mutation*
  • Lymphoproliferative Disorders / genetics
  • Lymphoproliferative Disorders / pathology
  • Lymphoproliferative Disorders / virology
  • Male
  • Papillomaviridae
  • Protein-Tyrosine Kinases / deficiency*
  • Protein-Tyrosine Kinases / genetics*
  • Siblings
  • T-Lymphocytes / pathology*
  • Tomography, X-Ray Computed

Substances

  • Keratolytic Agents
  • Protein-Tyrosine Kinases
  • emt protein-tyrosine kinase
  • Acitretin