ArticleThe Journal of allergy and clinical immunology2021
Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia.
Article in The Journal of allergy and clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- Extended multisystem manifestations of hereditary α-tryptasemia in an allergy center cohort.The journal of allergy and clinical immunology. Global · 2026Article
- Hereditary α-tryptasemia; a review of mechanisms linking α-tryptase gene dosage to intestinal homeostasis and immunopathology.Frontiers in allergy · 2026Review
- MRGPRX2-expressing mast cells are increased in the GI tract of individuals with active inflammatory bowel disease and hereditary α-tryptasemia.medRxiv : the preprint server for health sciences · 2025Article
- Non allergic gastrointestinal manifestations of hereditary alpha-tryptasemia.Frontiers in allergy · 2025Review
- MRGPRX2-expressing mast cells are increased in the GI tract of individuals with active inflammatory bowel disease and hereditary α-tryptasemia.Frontiers in allergy · 2025Article
- From mechanism to management: CEREMAST perspectives on the intersection of HαT and clonal mast cell disorders.Frontiers in allergy · 2025Article
- Hereditary alpha-tryptasemia and monoclonal mast cell disorders.Frontiers in allergy · 2025Review
- High burden of clonal mast cell disorders and hereditary α-tryptasemia in patients who need Hymenoptera venom immunotherapy.Allergy · 2024Article
- Mast cell activation syndrome: Current understanding and research needs.The Journal of allergy and clinical immunology · 2024Review
- The Clinical Features of Hereditary Alpha-Tryptasemia—Implications for Interdisciplinary Practice.Deutsches Arzteblatt international · 2024Review
- Alpha-Tryptase as a Risk-Modifying Factor for Mast Cell-Mediated Reactions.Current allergy and asthma reports · 2024Review
- The Role of Diet in the Management of Irritable Bowel Syndrome: A Comprehensive Review.Cureus · 2024Review
- Hereditary alpha-tryptasemia in patients with postural orthostatic tachycardia syndrome.The journal of allergy and clinical immunology. In practice · 2024Article
- Incorporating Tryptase Genotyping Into the Workup and Diagnosis of Mast Cell Diseases and Reactions.The journal of allergy and clinical immunology. In practice · 2022Review
- Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders.HGG advances · 2022Article
- Identification of novel tumor microenvironment-associated genes in gastric cancer based on single-cell RNA-sequencing datasets.Frontiers in genetics · 2022Article
- Clinical relevance of inherited genetic differences in human tryptases: Hereditary alpha-tryptasemia and beyond.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2021Review
- Mastocytosis and Mast Cell Activation Disorders: Clearing the Air.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
24 authors at 9 institutions in 1 country.
Funding
Abstract
backgroundHereditary 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.
objectiveWe 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.
methodsTryptase genotyping by droplet digital PCR, flow cytometry, cytometry by time-of-flight, immunohistochemistry, and other molecular biology techniques was used.
resultsHαT prevalence in a large irritable bowel syndrome cohort was 5% (N = 8/158). Immunophenotyping of HαT PBMCs (N ≥ 27) revealed increased total and class-switched memory B cells. In the small bowel, expansion of tissue mast cells with expression of CD203c, HLA-DR, and FcεRI, higher intestinal epithelial cell pyroptosis, and increased class-switched memory B cells were observed. IgG profiles in sera from individuals with HαT (N = 21) significantly differed from those in individuals with quiescent Crohn disease (N = 20) and non-HαT controls (N = 19), with increased antibodies directed against GI-associated proteins identified in individuals with HαT.
conclusionsIncreased mast cell number and intestinal epithelial cell pyroptosis in the small intestine, and class-switched memory B cells in both the gut and peripheral blood associated with IgG reactive to GI-related proteins, distinguish HαT from functional GI disease. These innate and adaptive immunologic findings identified in association with HαT are suggestive of subclinical intestinal inflammation in symptomatic individuals.
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