Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant

J Clin Immunol. 2021 May;41(4):834-836. doi: 10.1007/s10875-021-00970-3. Epub 2021 Jan 27.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Alternative Splicing*
  • Child
  • Chromosomes, Human, Pair 6*
  • Comparative Genomic Hybridization
  • DNA Mutational Analysis
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Interferon gamma Receptor
  • Male
  • Pedigree
  • Phenotype
  • Receptors, Interferon / deficiency*
  • Uniparental Disomy / genetics*

Substances

  • Receptors, Interferon