JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome

J Allergy Clin Immunol. 2017 Jun;139(6):2016-2020.e5. doi: 10.1016/j.jaci.2016.12.957. Epub 2017 Jan 19.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Female
  • Gain of Function Mutation*
  • Genes, Dominant*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Germ-Line Mutation
  • Humans
  • Hypereosinophilic Syndrome / diagnosis*
  • Hypereosinophilic Syndrome / drug therapy
  • Hypereosinophilic Syndrome / etiology*
  • Immune System Diseases / diagnosis*
  • Immune System Diseases / drug therapy
  • Immune System Diseases / etiology*
  • Immunomodulation / genetics
  • Janus Kinase 1 / chemistry
  • Janus Kinase 1 / genetics*
  • Male
  • Pedigree
  • Phenotype
  • Whole Exome Sequencing

Substances

  • JAK1 protein, human
  • Janus Kinase 1

Grant support