Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site

J Allergy Clin Immunol. 2017 Jul;140(1):268-271.e6. doi: 10.1016/j.jaci.2016.09.057. Epub 2016 Dec 10.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Biomarkers
  • Biopsy
  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Homozygote*
  • Humans
  • Janus Kinase 3 / deficiency*
  • Janus Kinase 3 / genetics
  • Janus Kinase 3 / metabolism
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • RNA Splice Sites*
  • Skin / metabolism
  • Skin / pathology

Substances

  • Biomarkers
  • RNA Splice Sites
  • JAK3 protein, human
  • Janus Kinase 3