Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
case_report · Level V
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- Record sourced from PubMed, PMID 30778533.
- Also identified by DOI 10.1093/cid/ciy942 and PMC identifier 7317279.
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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.
Medical subject headings
- Epidermodysplasia Verruciformis
- Hodgkin Disease
- Loss of Function Mutation
- Protein-Tyrosine Kinases
- T-Lymphocytes