ArticleBlood advances2023
Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms.
Article in Blood advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 54 citations in OpenAlex.
- Understanding Tryptase Physiology, Clinical Significance, and Diagnostic Applications: Where Do We Stand?Biomolecules · 2026Review
- Nasal Airway Transcriptome Reflects Selected Asthma-Associated Gene Signatures in the Lower Airways.Allergy · 2026Article
- 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
- Distinct Tryptase Gene Copy Number Variations Correlate With Tryptase Levels in a Population-Based Cohort.Allergy · 2026Article
- Hereditary Alpha-Tryptasemia and Mastocytosis: What We Know and What We Need To Learn.Current allergy and asthma reports · 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
- Baseline Serum Tryptase: Sex- and Age-Specific Reference Intervals in the Pediatric and Adult Population.Allergy · 2025Article
- Evolution of mast cell research associated with the Laboratory of Allergic Diseases, 1985-2022: Summary of the 2023 NIAID Symposium.The Journal of allergy and clinical immunology · 2025Review
- Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.British journal of haematology · 2025Article
- Hereditary alpha tryptasemia and clinical implications.World journal of clinical cases · 2025Review
- Mastocytosis in the Skin: Approach to Diagnosis, Evaluation, and Management in Adult and Pediatric Patients.American journal of clinical dermatology · 2025Review
- Hereditary α-Tryptasemia and Peripheral BloodInternational journal of molecular sciences · 2025Article
- Mastocytosis.Nature reviews. Disease primers · 2025Review
- Appraisal of the evidence linking hereditary α-tryptasemia with mast cell disorders, hypermobility and dysautonomia.Allergy and asthma proceedings · 2025Review
- Cold-induced anaphylaxis: new insights into clinical and genetic characteristics.Frontiers in immunology · 2025Article
- Utility of tryptase genotyping in the screening, diagnosis, and management of systemic mastocytosis.Frontiers in allergy · 2025Review
- Hereditary alpha-tryptasemia and monoclonal mast cell disorders.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
- Defining "Normal" basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis.Frontiers in allergy · 2025Review
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Authors and funding
45 authors at 19 institutions in 5 countries.
Funding
Abstract
Serum tryptase is a biomarker used to aid in the identification of certain myeloid neoplasms, most notably systemic mastocytosis, where basal serum tryptase (BST) levels >20 ng/mL are a minor criterion for diagnosis. Although clonal myeloid neoplasms are rare, the common cause for elevated BST levels is the genetic trait hereditary α-tryptasemia (HαT) caused by increased germline TPSAB1 copy number. To date, the precise structural variation and mechanism(s) underlying elevated BST in HαT and the general clinical utility of tryptase genotyping, remain undefined. Through cloning, long-read sequencing, and assembling of the human tryptase locus from an individual with HαT, and validating our findings in vitro and in silico, we demonstrate that BST elevations arise from overexpression of replicated TPSAB1 loci encoding canonical α-tryptase protein owing to coinheritance of a linked overactive promoter element. Modeling BST levels based on TPSAB1 replication number, we generate new individualized clinical reference values for the upper limit of normal. Using this personalized laboratory medicine approach, we demonstrate the clinical utility of tryptase genotyping, finding that in the absence of HαT, BST levels >11.4 ng/mL frequently identify indolent clonal mast cell disease. Moreover, substantial BST elevations (eg, >100 ng/mL), which would ordinarily prompt bone marrow biopsy, can result from TPSAB1 replications alone and thus be within normal limits for certain individuals with HαT.
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