ArticleNature genetics2016
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.
Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 162 papers, 1 of them a synthesis that pooled it.
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Who cites it
162 citing papers in PubMed, 1 synthesis or guideline pooled it, 378 citations in OpenAlex.
- Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.Communications biology · 2023Pooled it
- Hypersensitivity Reactions to Biologics: Advances in Diagnosis and Management.Current allergy and asthma reports · 2026Review
- Understanding Tryptase Physiology, Clinical Significance, and Diagnostic Applications: Where Do We Stand?Biomolecules · 2026Review
- Elevated Tryptase and Hereditary Alpha Tryptasemia in Drug Hypersensitivity and Desensitization.Allergy · 2026Article
- The REMA Score Revisited: An Optimized Algorithm for Early Prediction of Clonal Mast Cell Disease.Allergy · 2026Article
- Long-term ocular symptoms following COVID-19 linked to immune dysregulation, dysautonomia and peripheral neuropathy.Nature communications · 2026Article
- Extended multisystem manifestations of hereditary α-tryptasemia in an allergy center cohort.The journal of allergy and clinical immunology. Global · 2026Article
- Mast cell proteases and their significance in physiology, pathology, and therapeutic approaches.Pharmacological reviews · 2026Review
- Hereditary alpha-tryptasemia demonstrates relative basophil enrichment without signs of cellular hyperreactivity.The journal of allergy and clinical immunology. Global · 2026Article
- Integrative transcriptomic and machine learning analysis identifies key extracellular matrix-related genes in diabetic retinopathy.Scientific reports · 2026Article
- Diagnosing Systemic Mastocytosis: State of the Art.International journal of laboratory hematology · 2026Review
- 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
- Sexual Dimorphism in Allergic and Mast Cell-Associated Diseases.Clinical reviews in allergy & immunology · 2026Review
- Emerging Insights into Hereditary Alpha-Tryptasemia in the Context of Mast Cell Disorders: A Greek Case Series.Journal of personalized medicine · 2026Article
- Insights Into Hereditary Alpha-Tryptasemia From a Genome-Wide Association Study in Hymenoptera Venom Anaphylaxis.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2026Article
- Mast Cell Mediators and Their Diagnostic Utility in Clonal and Nonclonal Mast Cell Activation Disorders.Current allergy and asthma reports · 2026Review
- 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
- Hereditary α-tryptasemia; a review of mechanisms linking α-tryptase gene dosage to intestinal homeostasis and immunopathology.Frontiers in allergy · 2026Review
102 more citing papers are in PubMed but not listed here.
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Authors and funding
36 authors at 7 institutions in 2 countries.
Funding
Abstract
Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints. Individuals harboring alleles encoding three copies of α-tryptase had higher basal serum levels of tryptase and were more symptomatic than those with alleles encoding two copies, suggesting a gene-dose effect. Further, we found in two additional cohorts (172 individuals) that elevated basal serum tryptase levels were exclusively associated with duplication of α-tryptase-encoding sequence in TPSAB1, and affected individuals reported symptom complexes seen in our initial familial cohort. Thus, our findings link duplications in TPSAB1 with irritable bowel syndrome, cutaneous complaints, connective tissue abnormalities, and dysautonomia.
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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.