Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency

J Clin Immunol. 2018 Oct;38(7):753-756. doi: 10.1007/s10875-018-0554-3. Epub 2018 Oct 13.
No abstract available

Publication types

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

MeSH terms

  • Candidiasis, Chronic Mucocutaneous / etiology
  • DNA Mutational Analysis
  • Female
  • Gain of Function Mutation*
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Hematopoietic Stem Cell Transplantation
  • Heterozygote
  • Humans
  • Immunoglobulin A / blood
  • Immunoglobulin G / blood
  • Pedigree
  • Phenotype
  • STAT1 Transcription Factor / genetics*
  • Severe Combined Immunodeficiency / complications
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / therapy
  • Tomography, X-Ray Computed
  • Young Adult

Substances

  • Immunoglobulin A
  • Immunoglobulin G
  • STAT1 Transcription Factor
  • STAT1 protein, human