Clinical relevance of inherited genetic differences in human tryptases: Hereditary alpha-tryptasemia and beyond.

ABSTRACT:

Objective

To describe our current understanding of hereditary α-tryptasemia (HαT), how HαT fits into the evolutionary context of tryptases and contemporary framework of mast cell-associated disorders, and to discuss the future clinical and therapeutic landscape for symptomatic individuals with HαT.

Data sources

Primary peer-reviewed literature.

Study selections

Basic, clinical, and translational studies describing tryptase gene composition, generation, secretion, and elevation and the associated clinical impacts of HαT and treatment of such individuals were reviewed.

Results

HαT is a common autosomal dominant genetic trait caused by increased TPSAB1 copy number encoding α-tryptase. Approximately 1 in 20 White individuals have HαT, making it by far the most comm

SUBMITTER: Glover SC 

PROVIDER: S-EPMC9413800 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature