AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity

J Clin Immunol. 2017 Jan;37(1):12-17. doi: 10.1007/s10875-016-0351-9. Epub 2016 Nov 14.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Chromosome Disorders
  • DNA Mutational Analysis
  • Early Diagnosis
  • Genes, Dominant
  • Humans
  • Immunoglobulin E / biosynthesis*
  • Immunoglobulin E / blood
  • Lymphocyte Count
  • Male
  • Mevalonate Kinase Deficiency / diagnosis*
  • Mevalonate Kinase Deficiency / genetics
  • Mutation, Missense / genetics*
  • Pathology, Molecular
  • Receptors, Antigen, T-Cell, gamma-delta / metabolism
  • STAT3 Transcription Factor / genetics*
  • T-Lymphocytes / pathology*

Substances

  • Receptors, Antigen, T-Cell, gamma-delta
  • STAT3 Transcription Factor
  • STAT3 protein, human
  • Immunoglobulin E