Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient

J Clin Immunol. 2021 Jan;41(1):217-220. doi: 10.1007/s10875-020-00870-y. Epub 2020 Sep 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Biomarkers
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Genetic Association Studies / methods
  • Genetic Predisposition to Disease*
  • Homozygote*
  • Humans
  • Immunohistochemistry
  • Lung Diseases / diagnosis*
  • Lung Diseases / genetics*
  • Mutation*
  • Perforin / genetics*
  • Phenotype*
  • Symptom Assessment
  • Tomography, X-Ray Computed

Substances

  • Biomarkers
  • PRF1 protein, human
  • Perforin