{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T07:56:11Z","timestamp":1790668571117,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T00:00:00Z","timestamp":1696982400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Allergy"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A close association between hereditary alpha\u2010tryptasemia (HAT) and mast cell (MC) disorders has been previously reported. However, the relationship between HAT and the diagnostic subtypes and clinical features of MC disorders still remains to be established.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine the prevalence of HAT in healthy donors (HD) vs patients with different diagnostic subtypes of MC activation syndromes (MCAS) and mastocytosis, and its relationship with the clinical behavior of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 959 subjects were studied including 346 healthy donors (HD), 464 mastocytosis, and 149 non\u2010clonal MCAS patients. Molecular studies to assess the <jats:italic>TPSAB1<\/jats:italic> genotype were performed, and data on serum baseline tryptase (sBT) and basal MC\u2010mediator release episodes and triggers of anaphylaxis were collected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>HAT was detected in 15\/346 (4%) HD versus 43\/149 (29%) non\u2010clonal MCAS and 84\/464 (18%) mastocytosis cases. Among mastocytosis, HAT was more frequently found in patients with MC\u2010restricted <jats:italic>KIT<\/jats:italic><jats:sup>D816V<\/jats:sup> (21% vs. 10% among multilineage <jats:italic>KIT<\/jats:italic><jats:sup>D816V<\/jats:sup> patients; <jats:italic>p<\/jats:italic>\u2009=\u2009.008). Overall, median sBT was higher in cases presenting with HAT (28.9 vs. 24.5\u2009ng\/mL; <jats:italic>p<\/jats:italic>\u2009=\u2009.008), while no significant differences in sBT were observed among HAT<jats:sup>+<\/jats:sup> mastocytosis patients depending on the presence of 1 vs. \u22652 extra copies of the \u03b1\u2010tryptase gene (44.1 vs. 35.2\u2009ng\/mL, <jats:italic>p<\/jats:italic>\u2009&gt;\u2009.05). In turn, anaphylaxis was more frequently observed in HAT<jats:sup>+<\/jats:sup> versus HAT<jats:sup>\u2212<\/jats:sup> mastocytosis patients (76% vs. 65%; <jats:italic>p<\/jats:italic>\u2009=\u2009.018), while HAT<jats:sup>+<\/jats:sup> and HAT<jats:sup>\u2212<\/jats:sup> patients who did not refer anaphylaxis as the presenting symptom (<jats:italic>n<\/jats:italic>\u2009=\u2009308) showed a similar prevalence of subsequent anaphylaxis (35% vs. 36%, respectively).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The frequency of HAT in MC disorders varies according to the diagnostic subtype of the disease. HAT does not imply a higher risk (and severity) of anaphylaxis in mastocytosis patients in whom anaphylaxis is not part of the presenting symptoms of the disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/all.15911","type":"journal-article","created":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T05:27:45Z","timestamp":1697088465000},"page":"711-723","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Clinical impact of the <i>TPSAB1<\/i> genotype in mast cell diseases: A REMA study in a cohort of 959 individuals"],"prefix":"10.1111","volume":"79","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6653-4900","authenticated-orcid":false,"given":"David","family":"Gonz\u00e1lez\u2010de\u2010Olano","sequence":"first","affiliation":[{"name":"Department of Allergy Hospital Ram\u00f3n y Cajal, IRYCIS  Madrid Spain"},{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca  Salamanca 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