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Title:Routine KIT p.D816V screening identifies clonal mast cell disease in Hymenoptera allergic patients regularly missed using baseline tryptase levels alone
Authors:Šelb, Julij (Author)
Rijavec, Matija (Author)
Eržen, Renato (Author)
Zidarn, Mihaela (Author)
Kopač, Peter (Author)
Škerget, Matevž (Author)
Bajrović, Nisera (Author)
Demšar, Ajda (Author)
Park, Young Hwan (Author)
Liu, Yihui (Author)
Čurin-Šerbec, Vladka (Author)
Zver, Samo (Author)
Košnik, Mitja (Author)
Lyons, Jonathan J. (Author)
Korošec, Peter (Author)
Language:English
Tipology:1.01 - Original Scientific Article
Organisation:Logo UKPBAG - University Clinic of Respiratory and Allergic Diseases Golnik
Abstract: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.
Keywords:anaphylaxis, venoms, hypersensitivity, hereditary alpha-tryptasemia
Year of publishing:2021
Publisher:Elsevier
Source:ZDA
COBISS_ID:56665603 Link is opened in a new window
UDC:616.1
ISSN on article:1097-6825
DOI:10.1016/j.jaci.2021.02.043 Link is opened in a new window
Note:Nasl. z nasl. zaslona; Soavtorji iz Slovenije: Matija Rijavec, Renato Eržen, Mihaela Zidarn, Peter Kopač, Matevž Škerget, Nissera Bajrović, Ajda Demšar Luzar, Vladka Čurin Šerbec, Samo Zver, Mitja Košnik, Peter Korošec; Julij Šelb and Matija Rijavec contributed equally; Opis vira z dne 22. 3. 2021;
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Downloads:31
Files:URL URL - Source URL, visit https://www.jacionline.org/action/showPdf?pii=S0091-6749%2821%2900423-1
 
Journal:J. allergy clin. immunol.
Elsevier
 
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Rights:© 2021 Published by Elsevier Inc
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