Journal
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA
Volume 38, Issue 3, Pages 483-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.iac.2018.04.003
Keywords
Mast cell activation; Hypertryptasemia; Autosomal dominant; Genotyping
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Funding
- Division of Intramural Research of the National Institute of Allergy and Infectious Diseases, NIH
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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.
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