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doi:10.22028/D291-41015
Titel: | The German National Registry of Primary Immunodeficiencies (2012-2017) |
VerfasserIn: | El-Helou, Sabine M. Biegner, Anika-Kerstin Bode, Sebastian Ehl, Stephan R. Heeg, Maximilian Maccari, Maria E. Ritterbusch, Henrike Speckmann, Carsten Rusch, Stephan Scheible, Raphael Warnatz, Klaus Holzer, Ursula Henes, Jörg Kanz, Lothar Boesecke, Christoph Jakoby, Donate Rockstroh, Jürgen K. Schwarze-Zander, Carolynne Wasmuth, Jan-Christian Dilloo, Dagmar Hülsmann, Brigitte Kühnle, Ingrid Schönberger, Stefan Schreiber, Stefan Zeuner, Rainald Ankermann, Tobias von Bismarck, Philipp Kulozik, Andreas E. Metzler, Markus Naumann-Bartsch, Nora Sobik, Bettina Graf, Norbert Kullmann, Silke Heine, Sabine Atschekzei, Faranaz Kobbe, Robin Lehmberg, Kai Müller, Ingo Herrmann, Friedrich Horneff, Gerd Klein, Ariane Peitz, Joachim Schmidt, Nadine Girschick, Hermann Bielack, Stefan Groß-Wieltsch, Ute Beider, Renata Classen, Carl F. Klasen, Jessica Deutz, Peter Kamitz, Dirk Lassay, Lisa Tenbrock, Klaus Wagner, Norbert Specker, Christof Bernbeck, Benedikt Brummel, Bastian Lara-Villacanas, Eusebia Ernst, Diana Münstermann, Esther Schneider, Dominik T. Tietsch, Nadine Westkemper, Marco Weiß, Michael Kramm, Christof Gerschmann, Stev Vinnemeier-Laubenthal, Elisabeth Haenicke, Henriette Schulz, Claudia Schweigerer, Lothar Müller, Thomas G. Laws, Hans-Juergen Stiefel, Martina Belohradsky, Bernd H Soetedjo, Veronika Kindle, Gerhard Grimbacher, Bodo Jablonka, Alexandra Mielke, Gudrun Schmidt, Reinhold E. Schürmann, Gesine Sogkas, Georgios Neubert, Jennifer Baumann, Ulrich H. Klemann, Christian Viemann, Dorothee von Bernuth, Horst Krüger, Renate Hanitsch, Leif G. Scheibenbogen, Carmen M. Wittke, Kirsten Albert, Michael H. Eichinger, Anna Oommen, Prasad T. Hauck, Fabian Klein, Christoph Rack-Hoch, Anita Sollinger, Franz M. Avila, Anne Borte, Michael Borte, Stephan Fasshauer, Maria Hauenherm, Anja Kellner, Nils Hönig, Manfred Müller, Anna H. Ülzen, Anett Bader, Peter Bakhtiar, Shahrzad Lee, Jae-Yun Heß, Ursula Schubert, Ralf Wölke, Sandra Zielen, Stefan Ghosh, Sujal Schulz, Ansgar Steinmann, Sandra Schwarz, Klaus Dückers, Gregor Lamers, Beate Langemeyer, Vanessa Huppertz, Hans-Iko Niehues, Tim Shai, Sonu Graf, Dagmar Müglich, Carmen Schmalzing, Marc T. Schwaneck, Eva C. Tony, Hans-Peter Dirks, Johannes Haase, Gabriele Liese, Johannes G. Kaiser-Labusch, Petra Morbach, Henner Foell, Dirk Hellige, Antje Wittkowski, Helmut Masjosthusmann, Katja Mohr, Michael Geberzahn, Linda Hedrich, Christian M. Müller, Christiane Rösen-Wolff, Angela Greil, Johann Roesler, Joachim Zimmermann, Antje Behrends, Uta Rieber, Nikolaus Schauer, Uwe Handgretinger, Rupert |
Sprache: | Englisch |
Titel: | Frontiers in Immunology |
Bandnummer: | 10 |
Verlag/Plattform: | Frontiers |
Erscheinungsjahr: | 2019 |
Freie Schlagwörter: | registry for primary immunodeficiency primary immunodeficiency (PID) German PID-NET registry PID prevalence European Society for Immunodeficiencies (ESID) IgG substitution therapy CVID |
DDC-Sachgruppe: | 610 Medizin, Gesundheit |
Dokumenttyp: | Journalartikel / Zeitschriftenartikel |
Abstract: | Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel. Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1–25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of patients. The age of onset for presenting symptoms ranged from birth to late adulthood (range 0–88 years). Presenting symptoms comprised infections (74%) and immune dysregulation (22%). Ninety-three patients were diagnosed without prior clinical symptoms. Regarding the general and clinical diagnostic delay, no PID had undergone a slight decrease within the last decade. However, both, SCID and hyper IgE- syndrome showed a substantial improvement in shortening the time between onset of symptoms and genetic diagnosis. Regarding treatment, 49% of all patients received immunoglobulin G (IgG) substitution (70%—subcutaneous; 29%—intravenous; 1%—unknown). Three-hundred patients underwent at least one hematopoietic stem cell transplantation (HSCT). Five patients had gene therapy. Conclusion: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a more timely diagnosis and better treatment. |
DOI der Erstveröffentlichung: | 10.3389/fimmu.2019.01272 |
URL der Erstveröffentlichung: | https://www.frontiersin.org/articles/10.3389/fimmu.2019.01272 |
Link zu diesem Datensatz: | urn:nbn:de:bsz:291--ds-410153 hdl:20.500.11880/36812 http://dx.doi.org/10.22028/D291-41015 |
ISSN: | 1664-3224 |
Datum des Eintrags: | 9-Nov-2023 |
Bezeichnung des in Beziehung stehenden Objekts: | Supplementary Material |
In Beziehung stehendes Objekt: | https://www.frontiersin.org/articles/file/downloadfile/461195_supplementary-materials_presentations_1_pdf/octet-stream/Presentation%201.pdf/2/461195?isPublishedV2=False |
Fakultät: | M - Medizinische Fakultät |
Fachrichtung: | M - Pädiatrie |
Professur: | M - Prof. Dr. Norbert Graf |
Sammlung: | SciDok - Der Wissenschaftsserver der Universität des Saarlandes |
Dateien zu diesem Datensatz:
Datei | Beschreibung | Größe | Format | |
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fimmu-10-01272.pdf | 2,86 MB | Adobe PDF | Öffnen/Anzeigen |
Diese Ressource wurde unter folgender Copyright-Bestimmung veröffentlicht: Lizenz von Creative Commons