Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Taucher, S.
Multi-centric, cross-sectional study about the prevalence and care of patients with inborn errors of immunity in Austria according to The European Society for Immunodeficiencies (ESID) Registry
Humanmedizin; [ Diplomarbeit/Master Thesis (UNI) ] Graz Medical University; 2019. pp.107.
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- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Seidel Markus
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- Abstract:
- Introduction: Patients with inborn errors of immunity (IEI) clinically present with a variety of symptoms and receive different types of treatment. The European Society for Immunodeficiencies (ESID) Registry displays an online platform to document those patients. The main purpose of this study is to demonstrate the current situation in Austria, after the first decade of participation in the ESID registry, regarding the prevalence of specific categories of IEI, clinical manifestation, and age distribution of patients, further focusing on diagnostic delay and the evaluation of applied diagnostic methods and treatment options using the patient data of the registry. Patients/Methods: The online database of the ESID registry is used to perform a comprehensive, cross-sectional study of Austrian patients with IEI. Additionally, a survey among documenting centres and specific internal departments is conducted to investigate benefits and barriers of the registry. Results: 181 patients (104 males, 77 females) are currently registered by six different documenting centres, which geographically show an unequal distribution since the western part of Austria is not represented in the ESID registry. The coverage of patients with IEI is currently 16.98%, according to the ESID Reporting Tool. Predominantly antibody deficiencies display the most common IEI category (42%). In 63% of patients, the initial onset symptom was infection; however, 13% of patients still clinically manifested with immune dysregulation. Regarding quality of diagnosis, 78 patients were genetically tested, with a median age of 2,42 years at genetic diagnosis. For genetic analyses, gene sequencing was used in almost half of cases (46%). 69 patients have been receiving Ig-replacement therapy, being the most common treatment type of documented Austrian patients, while 11 patients were undergoing hematopoietic stem cell transplantation (HSCT). Conclusions: The ESID registry as the only multi-centric registry for IEI patients in Austria represents a valuable database for documentation of patients and aims to improve networking between centres. It displays an important instrument in terms of research and a basis for health-related decisions. However, as certain medical centres are currently not participating in the ESID registry, the data still fails to represent the entirety of Austrian patients with IEI. Thus, further participation by Austrian centres caring for patients with IEI as well as completeness of data is needed in order to provide statistically representative data.