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Routine KIT p.D816V screening identifies clonal mast cell disease in Hymenoptera allergic patients regularly missed using baseline tryptase levels alone [Elektronski vir]Šelb, Julij ...Background. Clonal mast cell disorders and elevated BST of unknown cause(s) are associated with severe Hymenoptera venom-triggered anaphylaxis (HVA). However, some individuals with clonal disease ... have normal BST (<11.4 ng/mL). Objective. To evaluate whether screening for KIT p.D816V in the blood is a useful clinical tool to risk-stratify patients with venom allergy. Methods. We prospectively recruited 374 patients with Hymenoptera allergy and no overt signs of mastocytosis referred to our center in the years 2018-19. KIT p.D816V was determined in the peripheral blood with qPCR and tryptase genotyping was performed by droplet-digital PCR. Results. 351 patients (93.9%) had normal levels of BST and KIT p.D816V was detected in 8% of patients (28/351), predominantly in patients with the most severe Mueller grade IV anaphylaxis (18.2%[24/132] vs 1.8%[4/88 in grade III; 0/131 in other grades] in lower grades; P<0.001). In grade IV patients with normal BST, KIT p.D816V was associated with more severe symptoms including a significantly higher frequency of loss of consciousness (58.3%[14/24] vs 34.3%[37/108]; P=0.03) and absence of skin symptoms (41.7%[10/24] vs 15.7%[17/108]; P=0.004). Among patients with normal BST, KIT p.D816V (OR [95%CI]: 10.25[3.75-36.14]; P<0.0001) was the major risk factor associated with severe HVA. Hereditary [alpha]-tryptasemia (H[alpha]T), due to increased germline copies of TPSAB1 encoding [alpha]-tryptase was the most common cause (65.2%; 15/23) of elevated BST in patients with HVA and together with KIT p.D816V accounted for 90% (20/23) of BST elevations in HVA patients. Conclusion. These results indicate that routine KIT p.D816V screening identifies clonal disease in high-risk HVA patients regularly missed using BST alone.Vir: The journal of allergy and clinical immunology [Elektronski vir]. - ISSN 1097-6825 (Vol. 148, iss. 2, Aug. 2021, str. 621-626.e7)Vrsta gradiva - e-članek ; neleposlovje za odrasleLeto - 2021Jezik - angleškiCOBISS.SI-ID - 56665603
Avtor
Šelb, Julij |
Rijavec, Matija |
Eržen, Renato |
Zidarn, Mihaela |
Kopač, Peter, 1979- |
Škerget, Matevž |
Bajrović, Nisera |
Demšar Luzar, Ajda |
Park, Young Hwan |
Liu, Yihui |
Čurin-Šerbec, Vladka |
Zver, Samo, 1966- |
Košnik, Mitja |
Lyons, Jonathan J. |
Korošec, Peter, 1970-
Teme
Anaphylaxis |
Venoms |
Hypersensitivity |
Mast cells |
Anafilaksija |
Živalski strupi |
Preobčutljivost |
Mastociti |
hereditarna alfa-triptazemija |
hereditary alpha-tryptasemia
Vnos na polico
Trajna povezava
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Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Šelb, Julij | 36479 |
Rijavec, Matija | 29300 |
Eržen, Renato | 25171 |
Zidarn, Mihaela | 25317 |
Kopač, Peter, 1979- | 30983 |
Škerget, Matevž | 39671 |
Bajrović, Nisera | 25336 |
Demšar Luzar, Ajda | 53537 |
Park, Young Hwan | |
Liu, Yihui | |
Čurin-Šerbec, Vladka | 05236 |
Zver, Samo, 1966- | 23817 |
Košnik, Mitja | 10921 |
Lyons, Jonathan J. | |
Korošec, Peter, 1970- | 22807 |
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