20.500.12556/DiRROS-23191 Hereditary α − tryptasemia and peripheral blood KIT D816V mutation in patients with pediatric mastocytosis Hereditary α-tryptasemia (HαT)—a genetic trait caused by increased α-tryptase-encoding typtase alpha/beta-1 (TPSAB1) copy number—is associated with adult mastocytosis. The primary objective was to assess the association between α-tryptase and pediatric mastocytosis. We also want to evaluate whether the KIT p.D816V mutation in peripheral blood leukocytes (PBLs) reliably predicts systemic mastocytosis (SM) in children. A prospective cohort of 68 children from a referral center in Slovenia with cutaneous mastocytosis (CM) underwent tryptase genotyping by droplet digital PCR and examination for KIT p.D816V in PBL using a sensitive PCR test. A significant majority of patients (57 of 68; [83.8%]) had at least one α-tryptase-encoding gene; none had HαT. 7 of the 68 (10.3%) who were positive for KIT p.D816V in PBL, one fulfilled diagnostic criteria for indolent SM, and another was diagnosed with monoclonal mast cell activation syndrome. One of those individuals had an increased basal serum tryptase (BST) level (14.5 ng/mL). We found a high presence of germline α-tryptase in children with CM, but not HαT. By employing sensitive examination for KIT p.D816V in PBL, in combination with clinical data and other examinations, our study suggests that KIT p.D816V in PBL may indicate systemic disease in children with CM. KIT D816V hereditary α-tryptasemia peripheral blood KIT D816V dedna α-triptasemija periferna kri true false true MDPI, 2000- International journal of molecular sciences Angleški jezik Slovenski jezik © 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Neznano 2025-08-05 11:19:26 2025-08-05 11:19:26 2025-10-24 03:53:32 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis vira z dne 22. 7. 2025; 16 str. issue 13, [article no.] 6023 Vol. 26 1 Jul. 2025 0000-00-00 Zaloznikova Objavljeno apc 2025-04-12 2025-06-19 2025-06-23 616.155.3-005.4:575.2(497.4) 1422-0067 10.3390/ijms26136023 243302147 https://www.mdpi.com/1422-0067/26/13/6023 1 48b1e5b5-71dd-11f0-9bb7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=34103 RAZ_Tockova_Olga_2025.pdf RAZ_Tockova_Olga_2025.pdf 1 A6E65703A906DCCE6A17B681AB4E1E41 ca7d27ce01d46c91754a3f1e1d27cecddfa7ce607b87f4d62bf84bc4604aafb3 e96580cb-71dd-11f0-9bb7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=34110 Univerzitetna klinika za pljučne bolezni in alergijo Golnik 0 0 0