ITK deficiency presenting as autoimmune lymphoproliferative syndrome

J Allergy Clin Immunol. 2021 Feb;147(2):743-745.e1. doi: 10.1016/j.jaci.2020.06.019. Epub 2020 Jul 4.

Abstract

A patient with a novel homozygous mutation in ITK presented with autoimmune lymphoproliferative syndrome, and had impaired TCR-driven Fas ligand upregulation, providing a mechanism for the T cell lymphoproliferation.

Publication types

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

MeSH terms

  • Adolescent
  • Autoimmune Lymphoproliferative Syndrome / genetics*
  • Consanguinity
  • Female
  • Humans
  • Infant
  • Mutation, Missense
  • Pedigree
  • Protein-Tyrosine Kinases / deficiency
  • Protein-Tyrosine Kinases / genetics*

Substances

  • Protein-Tyrosine Kinases
  • emt protein-tyrosine kinase