Hereditary Alpha Tryptasemia: Genotyping and Associated Clinical Features

Immunol Allergy Clin North Am. 2018 Aug;38(3):483-495. doi: 10.1016/j.iac.2018.04.003. Epub 2018 Jun 9.


Hereditary alpha tryptasemia is an autosomal dominant genetic trait caused by increased germline copies of TPSAB1 encoding alpha-tryptase. Individuals with this trait have elevated basal serum tryptase, and may present with associated multisystem complaints. Both basal serum tryptase levels and severity of clinical symptoms display a gene-dose relationship with TPSAB1, whereby higher tryptase levels and greater symptom severity are correlated with increasing numbers of alpha-encoding TPSAB1. As the functional effects of increased basal serum tryptase and/or altered tryptase gene expression are elucidated, greater insights will be gained into the symptoms associated with hereditary alpha tryptasemia and their potential therapy.

Keywords: Autosomal dominant; Genotyping; Hypertryptasemia; Mast cell activation.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Connective Tissue / pathology*
  • Disease Progression
  • Gene Dosage
  • Gene Duplication
  • Gene Expression Regulation
  • Genes, Dominant
  • Genotype
  • Humans
  • Hypersensitivity, Immediate / diagnosis
  • Hypersensitivity, Immediate / immunology*
  • Immunoglobulin E / metabolism
  • Mast Cells / physiology*
  • Mastocytosis / genetics
  • Mastocytosis / immunology*
  • Quantitative Trait Loci / genetics
  • Skin / pathology*
  • Tryptases / genetics*


  • Immunoglobulin E
  • TPSAB1 protein, human
  • Tryptases