A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

J Allergy Clin Immunol. 2018 Jan;141(1):432-435.e7. doi: 10.1016/j.jaci.2017.08.019. Epub 2017 Sep 18.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Asymptomatic Diseases
  • B-Lymphocytes / immunology
  • B-Lymphocytes / metabolism*
  • Biomarkers
  • Cell Differentiation / genetics*
  • Child
  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Haploinsufficiency*
  • Humans
  • Ikaros Transcription Factor / genetics*
  • Immunophenotyping
  • Male
  • Mutation
  • Pedigree
  • Whole Exome Sequencing

Substances

  • Biomarkers
  • IKZF1 protein, human
  • Ikaros Transcription Factor