Hereditary α − tryptasemia and peripheral blood KIT D816V mutation in patients with pediatric mastocytosisTočkova, Olga (Avtor) Planinšek Ručigaj, Tanja (Avtor) Ivančan, Simona (Avtor) Bidovec, Urška (Avtor) Rijavec, Matija (Avtor) Šelb, Julij (Avtor) Korošec, Peter (Korespondenčni avtor) KIT D816Vhereditary α-tryptasemiaperipheral bloodHereditary 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.MDPI, 2000-20252025-08-05 11:19:26Neznano23191UDK: 616.155.3-005.4:575.2(497.4)ISSN pri članku: 1422-0067DOI: 10.3390/ijms26136023COBISS_ID: 243302147International journal of molecular sciencessl© 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/).