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Projects / Programmes source: ARIS

Heritable risk for anaphylaxis associated with the increased germline copy number of α-tryptase-encoding sequences at TPSAB1

Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   

Code Science Field
3.02  Medical and Health Sciences  Clinical medicine 
Keywords
Anaphylaxis, food, Hymenoptera venom, medications, mast cells, tryptases, genotyping, ? -tryptase–encoding, TPSAB1 gene, duplication, triplication, germline, ddPCR
Evaluation (rules)
source: COBISS
Points
7,219.47
A''
1,657.01
A'
3,272.28
A1/2
4,853.41
CI10
23,496
CImax
1,782
h10
69
A1
25.8
A3
0.54
Data for the last 5 years (citations for the last 10 years) on April 21, 2024; A3 for period 2018-2022
Data for ARIS tenders ( 04.04.2019 – Programme tender, archive )
Database Linked records Citations Pure citations Average pure citations
WoS  703  23,950  22,898  32.57 
Scopus  611  28,576  27,371  44.8 
Researchers (26)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  19258  PhD Tadej Avčin  Human reproduction  Researcher  2021 - 2024  471 
2.  25336  Nissera Bajrović  Microbiology and immunology  Researcher  2021 - 2024  195 
3.  25169  PhD Urška Bidovec Stojkovič  Microbiology and immunology  Researcher  2021 - 2024  106 
4.  36211  PhD Štefan Blazina  Human reproduction  Researcher  2021 - 2024  46 
5.  30144  Maja Čamernik    Technical associate  2021 - 2024  15 
6.  51978  Jerneja Debeljak  Microbiology and immunology  Junior researcher  2021 - 2022  20 
7.  15657  PhD Maruša Debeljak  Oncology  Researcher  2021 - 2024  248 
8.  53537  Ajda Demšar Luzar  Microbiology and immunology  Junior researcher  2021 - 2024  11 
9.  54522  Nina Emeršič  Human reproduction  Researcher  2021 - 2024  23 
10.  30143  Mateja Hren    Technical associate  2021 - 2024 
11.  35356  PhD Barbara Jenko Bizjan  Medical sciences  Researcher  2021 - 2024  74 
12.  30983  PhD Peter Kopač  Microbiology and immunology  Researcher  2021 - 2024  256 
13.  34101  PhD Ana Koren  Microbiology and immunology  Researcher  2021 - 2024  87 
14.  34915  Anja Koren Jeverica  Microbiology and immunology  Researcher  2021 - 2024  56 
15.  22807  PhD Peter Korošec  Microbiology and immunology  Head  2021 - 2024  712 
16.  10921  PhD Mitja Košnik  Microbiology and immunology  Researcher  2021 - 2024  1,561 
17.  30987  PhD Nika Lalek  Microbiology and immunology  Researcher  2021 - 2024  51 
18.  52079  Ema Lovšin  Microbiology and immunology  Junior researcher  2021 - 2022 
19.  29593  Gašper Markelj  Microbiology and immunology  Researcher  2021 - 2024  81 
20.  51977  Maruša Rihar  Microbiology and immunology  Junior researcher  2021 - 2022 
21.  29300  PhD Matija Rijavec  Microbiology and immunology  Researcher  2021 - 2024  281 
22.  36479  PhD Julij Šelb  Oncology  Researcher  2021 - 2024  117 
23.  28571  PhD Nataša Toplak  Microbiology and immunology  Researcher  2021 - 2024  176 
24.  29810  Tina Vesel  Microbiology and immunology  Researcher  2021 - 2024  65 
25.  50227  PhD Mojca Zajc Avramovič  Human reproduction  Researcher  2022 - 2024  45 
26.  25317  PhD Mihaela Zidarn  Public health (occupational safety)  Researcher  2021 - 2024  443 
Organisations (2)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  1613  University Clinic of Respiratory and Allergic Diseases  Golnik  1190997  7,115 
2.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,433 
Abstract
Anaphylaxis is a severe, systemic hypersensitivity reaction that is rapid in onset. It is characterized by life-threatening airway, breathing, and/or circulatory problems usually accompanied with skin and mucosal changes. We recently identified (together with the NIH/NSAID), a novel genetic cause for allergic inflammation and immune dysregulation, a common germline genetic trait resulting from increased ?-tryptase–encoding sequences at TPSAB1 gene associated with severe anaphylaxis (Lyons, J.J., Chovanec, J., O'Connell, MP,… Korošec, P. 2021, J Allergy Clin Immunol). This project will contribute to further characterization of this inherited genetic variant, which leads to severe allergic inflammation and anaphylaxis. We will dissect TPSAB1 copy number pathogenesis according to the anaphylactic reactions in children, different triggers of anaphylaxis (food, Hymenoptera venom, and medications), clinical signs and symptoms, potentially near-fatal outcome of anaphylaxis and the natural course of anaphylaxis in adults. Finally, we will functionally characterize blood-derived mast cells from selected anaphylactic subjects with duplication or triplication of ?-tryptase–encoding copies at TPSAB1. In this last, functional part of the project, we are hypothesizing that a functional putative mast cell contributing anaphylactic mechanism may exist among individuals with increased ?-tryptase–encoding sequences, reflecting a gene dose-dependent mast cell hyperresponsiveness. A role for tryptases in anaphylaxis is relevant to recent efforts toward developing a targeted mAb that neutralizes tryptase proteolytic activity and limits anaphylaxis severity in a humanized mouse model. Our data might suggest that patient outcomes in clinical trials targeting tryptases for neutralization or inhibition may be significantly affected by tryptase genetic variation and that tryptase genotyping may help identify individuals in whom these personalized therapies may be of most benefit.
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