ArticleBlood2021
Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.
Article in Blood, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers.
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Who cites it
88 citing papers in PubMed, 172 citations in OpenAlex.
- Understanding Tryptase Physiology, Clinical Significance, and Diagnostic Applications: Where Do We Stand?Biomolecules · 2026Review
- Systemic Mastocytosis in Adults: 2026 Update on Diagnosis, Risk Stratification and Management.American journal of hematology · 2026Review
- Extended multisystem manifestations of hereditary α-tryptasemia in an allergy center cohort.The journal of allergy and clinical immunology. Global · 2026Article
- Hereditary Alpha-Tryptasemia (HαT) as a Risk Modifier for Severe Anaphylaxis.Immunology and allergy clinics of North America · 2026Review
- Characteristics and outcomes of patients with pediatric-onset non-mastocytosis mast cell activation disorders: A CEREMAST study.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Article
- Modern approaches to the diagnosis of alpha-tryptasemia.Journal of applied genetics · 2026Review
- Emerging Insights into Hereditary Alpha-Tryptasemia in the Context of Mast Cell Disorders: A Greek Case Series.Journal of personalized medicine · 2026Article
- Hereditary Alpha-Tryptasemia and Mastocytosis: What We Know and What We Need To Learn.Current allergy and asthma reports · 2026Review
- Systemic Mastocytosis, KIT and the Effects of KIT Tyrosine Kinase Inhibitors on Mast Cell and Basophil Activation.Current allergy and asthma reports · 2026Review
- In vitro diagnostics in hymenoptera venom allergy: Current concepts and perspectives.Allergologie select · 2026Review
- Impact of Molecular Evaluations in the Biology, Diagnosis, and Prognostication of Patients With Mastocytosis.The journal of allergy and clinical immunology. In practice · 2026Review
- Hereditary α-tryptasemia; a review of mechanisms linking α-tryptase gene dosage to intestinal homeostasis and immunopathology.Frontiers in allergy · 2026Review
- Distinct roles of dopamine receptors in HIV latency reversal in a myeloid cell model.Frontiers in immunology · 2026Article
- 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
- The evaluation, management, and future of indolent systemic mastocytosis.Annals of hematology · 2025Review
- Hereditary alpha tryptasemia and clinical implications.World journal of clinical cases · 2025Review
- Towards a Multi-omics Understanding of Anaphylaxis: Insights into Pathogenesis and Biomarker Identification.Clinical reviews in allergy & immunology · 2025Review
- Hereditary α-Tryptasemia and Peripheral BloodInternational journal of molecular sciences · 2025Article
- Systemic mastocytosis: current status and challenges in 2024.Blood advances · 2025Review
- Mastocytosis.Nature reviews. Disease primers · 2025Review
28 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 6 institutions in 3 countries.
Funding
Abstract
Mastocytosis is a hematopoietic neoplasm characterized by expansion of KIT D816V-mutated clonal mast cells in various organs and severe or even life-threatening anaphylactic reactions. Recently, hereditary α-tryptasemia (HαT) has been described as a common genetic trait with increased copy numbers of the α-tryptase encoding gene, TPSAB1, and associated with an increased basal serum tryptase level and a risk of mast cell activation. The purpose of our study was to elucidate the clinical relevance of HαT in patients with mastocytosis. TPSAB1 germline copy number variants were assessed by digital polymerase chain reaction in 180 mastocytosis patients, 180 sex-matched control subjects, 720 patients with other myeloid neoplasms, and 61 additional mastocytosis patients of an independent validation cohort. α-Tryptase encoding TPSAB1 copy number gains, compatible with HαT, were identified in 17.2% of mastocytosis patients and 4.4% of the control population (P < .001). Patients with HαT exhibited higher tryptase levels than patients without HαT (median tryptase in HαT+ cases: 49.6 ng/mL vs HαT- cases: 34.5 ng/mL, P = .004) independent of the mast cell burden. Hymenoptera venom hypersensitivity reactions and severe cardiovascular mediator-related symptoms/anaphylaxis were by far more frequently observed in mastocytosis patients with HαT than in those without HαT. Results were confirmed in an independent validation cohort. The high prevalence of HαT in mastocytosis hints at a potential pathogenic role of germline α-tryptase encoding TPSAB1 copy number gains in disease evolution. Together, our data suggest that HαT is a novel emerging robust biomarker in mastocytosis that is useful for determining the individual patient´s risk of developing severe anaphylaxis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.