First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease

J Clin Immunol. 2018 May;38(4):457-459. doi: 10.1007/s10875-018-0506-y. Epub 2018 May 11.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Clonal Evolution / genetics*
  • Female
  • Gene Dosage
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Mastocytosis / blood
  • Mastocytosis / diagnosis*
  • Mastocytosis / genetics*
  • Pedigree
  • Phenotype*
  • Tryptases / blood
  • Tryptases / genetics*

Substances

  • TPSAB1 protein, human
  • Tryptases