Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia.

ABSTRACT:

Background

Hereditary alpha-tryptasemia (HαT) is characterized by elevated basal serum tryptase due to increased copies of the TPSAB1 gene. Individuals with HαT frequently present with multisystem complaints, including anaphylaxis and seemingly functional gastrointestinal (GI) symptoms.

Objective

We sought to determine the prevalence of HαT in an irritable bowel syndrome cohort and associated immunologic characteristics that may distinguish patients with HαT from patients without HαT.

Methods

Tryptase genotyping by droplet digital PCR, flow cytometry, cytometry by time-of-flight, immunohistochemistry, and other molecular biology techniques was used.

Results

HαT prevalence in a large irritable bowel syndrome cohort was 5% (N = 8/158). Immunophenotyping of HαT PB

SUBMITTER: Konnikova L 

PROVIDER: S-EPMC9017395 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature