A Distinct Feature of T Cell Subpopulations in a Patient with CHARGE Syndrome and Omenn Syndrome

J Clin Immunol. 2021 Jan;41(1):233-237. doi: 10.1007/s10875-020-00875-7. Epub 2020 Oct 6.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers
  • CHARGE Syndrome / complications*
  • CHARGE Syndrome / diagnosis*
  • CHARGE Syndrome / etiology
  • DNA Helicases / genetics
  • DNA-Binding Proteins / genetics
  • Heterozygote
  • Humans
  • Immunophenotyping
  • Lymphocyte Count
  • Male
  • Mutation
  • Phenotype
  • Severe Combined Immunodeficiency / complications*
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / etiology
  • T-Lymphocyte Subsets / immunology*
  • T-Lymphocyte Subsets / metabolism

Substances

  • Biomarkers
  • DNA-Binding Proteins
  • DNA Helicases
  • CHD7 protein, human