The German national registry of primary immunodeficiencies (2012–2017)

Sabine M. El-Helou, Anika-Kerstin Biegner, Sebastian Bode, Stephan Ehl, Maximilian Heeg, Maria E. Maccari, Henrike Ritterbusch, Carsten Speckmann, Stephan Rusch, Raphael Scheible, Klaus Warnatz, Faranaz Atschekzei, Renata Beider, Diana Ernst, Stev Gerschmann, Alexandra Jablonka, Gudrun Mielke, Reinhold E. Schmidt, Gesine Schürmann, Georgios Sogkas, Ulrich Baumann, Christian Klemann, Dorothee Viemann, Horst von Bernuth, Renate Krüger, Leif Gunnar Hanitsch, Carmen Scheibenbogen, Kirsten Wittke, Michael H. Albert, Anna Eichinger, Fabian Hauck, Christoph Klein, Anita Rack-Hoch, Franz Sollinger, Anne Avila, Michael Borte, Stephan Borte, Maria Fasshauer, Anja Hauenherm, Nils Kellner, Anna H. Müller, Anett Ülzen, Peter Bader, Shahrzad Bakhtiar, Jae-Yun Lee, Ursula Heß, Ralf Schubert, Sandra Wölke, Stefan Zielen, Sujal Ghosh, Hans-Jürgen Laws, Jennifer Neubert, Prasad Thomas Oommen, Manfred Hönig, Ansgar Schulz, Sandra Steinmann, Klaus Schwarz, Gregor Dückers, Beate Lamers, Vanessa Langemeyer, Tim Niehues, Sonu Shai, Dagmar Graf, Carmen Müglich, Marc Schmalzing, Eva C. Schwaneck, Hans-Peter Tony, Johannes Dirks, Gabriele Haase, Johannes G. Liese, Henner Morbach, Dirk Föll, Antje Hellige, Helmut Wittkowski, Katja Masjosthusmann, Michael Mohr, Linda Geberzahn, Christian Michael Hedrich, Christiane Müller, Angela Rösen-Wolff, Joachim Roesler, Antje Zimmermann, Uta Behrends, Nikolaus Rieber, Uwe Schauer, Rupert Handgretinger, Ursula Holzer, Jörg Christoph Henes, Lothar Kanz, Christoph Boesecke, Jürgen Rockstroh, Carolynne Schwarze-Zander, Jan-Christian Wasmuth, Dagmar Dilloo, Brigitte Hülsmann, Stefan Schönberger, Stefan Schreiber, Rainald Zeuner, Tobias Ankermann, Philipp von Bismarck, Hans-Iko Huppertz, Petra Kaiser-Labusch, Johann Greil, Donate Jakoby, Andreas Kulozik, Markus Metzler, Nora Naumann-Bartsch, Bettina Sobik, Norbert Graf, Sabine Heine, Robin Kobbe, Kai Lehmberg, Ingo Müller, Friedrich Herrmann, Gerd Horneff, Ariane Klein, Joachim Peitz, Nadine Schmidt, Stefan S. Bielack, Ute Groß-Wieltsch, Carl Friedrich Classen, Jessica Klasen, Peter Deutz, Dirk Kamitz, Lisa Lassay, Klaus Tenbrock, Norbert Wagner, Benedikt Bernbeck, Bastian Brummel, Eusebia Lara-Villacanas, Esther Münstermann, Dominik T. Schneider, Nadine Tietsch, Marco Westkemper, Michael Weiß, Christof M. Kramm, Ingrid Kühnle, Silke Kullman, Hermann Girschick, Christof Specker, Elisabeth Vinnemeier-Laubenthal, Henriette Haenicke, Claudia Schulz, Lothar Schweigerer, Thomas G. Müller, Martina Stiefel, Bernd H. Belohradsky, Veronika Soetedjo, Gerhard Kindle, Bodo Grimbacher

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 Immunodeficiencie
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.
show moreshow less

Metadaten
Author:Sabine M. El-Helou, Anika-Kerstin Biegner, Sebastian Bode, Stephan Ehl, Maximilian Heeg, Maria E. Maccari, Henrike Ritterbusch, Carsten Speckmann, Stephan Rusch, Raphael Scheible, Klaus Warnatz, Faranaz Atschekzei, Renata Beider, Diana Ernst, Stev Gerschmann, Alexandra Jablonka, Gudrun Mielke, Reinhold E. Schmidt, Gesine Schürmann, Georgios Sogkas, Ulrich Baumann, Christian Klemann, Dorothee Viemann, Horst von Bernuth, Renate Krüger, Leif Gunnar Hanitsch, Carmen Scheibenbogen, Kirsten Wittke, Michael H. Albert, Anna Eichinger, Fabian Hauck, Christoph Klein, Anita Rack-Hoch, Franz Sollinger, Anne Avila, Michael Borte, Stephan Borte, Maria Fasshauer, Anja Hauenherm, Nils Kellner, Anna H. Müller, Anett Ülzen, Peter Bader, Shahrzad Bakhtiar, Jae-Yun Lee, Ursula Heß, Ralf Schubert, Sandra Wölke, Stefan Zielen, Sujal Ghosh, Hans-Jürgen Laws, Jennifer Neubert, Prasad Thomas Oommen, Manfred Hönig, Ansgar Schulz, Sandra Steinmann, Klaus Schwarz, Gregor Dückers, Beate Lamers, Vanessa Langemeyer, Tim Niehues, Sonu Shai, Dagmar Graf, Carmen Müglich, Marc Schmalzing, Eva C. Schwaneck, Hans-Peter Tony, Johannes Dirks, Gabriele Haase, Johannes G. Liese, Henner Morbach, Dirk Föll, Antje Hellige, Helmut Wittkowski, Katja Masjosthusmann, Michael Mohr, Linda Geberzahn, Christian Michael Hedrich, Christiane Müller, Angela Rösen-Wolff, Joachim Roesler, Antje Zimmermann, Uta Behrends, Nikolaus Rieber, Uwe Schauer, Rupert Handgretinger, Ursula Holzer, Jörg Christoph Henes, Lothar Kanz, Christoph Boesecke, Jürgen Rockstroh, Carolynne Schwarze-Zander, Jan-Christian Wasmuth, Dagmar Dilloo, Brigitte Hülsmann, Stefan Schönberger, Stefan Schreiber, Rainald Zeuner, Tobias Ankermann, Philipp von Bismarck, Hans-Iko Huppertz, Petra Kaiser-Labusch, Johann Greil, Donate Jakoby, Andreas Kulozik, Markus Metzler, Nora Naumann-Bartsch, Bettina Sobik, Norbert Graf, Sabine Heine, Robin Kobbe, Kai Lehmberg, Ingo Müller, Friedrich Herrmann, Gerd Horneff, Ariane Klein, Joachim Peitz, Nadine Schmidt, Stefan S. Bielack, Ute Groß-Wieltsch, Carl Friedrich Classen, Jessica Klasen, Peter Deutz, Dirk Kamitz, Lisa Lassay, Klaus Tenbrock, Norbert Wagner, Benedikt Bernbeck, Bastian Brummel, Eusebia Lara-Villacanas, Esther Münstermann, Dominik T. Schneider, Nadine Tietsch, Marco Westkemper, Michael Weiß, Christof M. Kramm, Ingrid Kühnle, Silke Kullman, Hermann Girschick, Christof Specker, Elisabeth Vinnemeier-Laubenthal, Henriette Haenicke, Claudia Schulz, Lothar Schweigerer, Thomas G. Müller, Martina Stiefel, Bernd H. Belohradsky, Veronika Soetedjo, Gerhard Kindle, Bodo Grimbacher
URN:urn:nbn:de:hebis:30:3-507587
DOI:http://dx.doi.org/10.3389/fimmu.2019.01272
ISSN:1664-3224
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=31379802
Parent Title (English):Frontiers in immunology
Publisher:Frontiers Media
Place of publication:Lausanne
Contributor(s):Waleed Al-Herz
Document Type:Article
Language:English
Year of Completion:2019
Date of first Publication:2019/07/19
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2019/08/22
Tag:CVID; European Society for Immunodeficiencies (ESID); German PID-NET registry; IgG substitution therapy; PID prevalence; primary immunodeficiency (PID); registry for primary immunodeficiency
Volume:10
Issue:Art. 1272
Pagenumber:25
First Page:1
Last Page:25
Note:
Copyright © 2019 El-Helou, Biegner, Bode, Ehl, Heeg, Maccari, Ritterbusch, Speckmann, Rusch, Scheible, Warnatz, Atschekzei, Beider, Ernst, Gerschmann, Jablonka, Mielke, Schmidt, Schürmann, Sogkas, Baumann, Klemann, Viemann, von Bernuth, Krüger, Hanitsch, Scheibenbogen, Wittke, Albert, Eichinger, Hauck, Klein, Rack-Hoch, Sollinger, Avila, Borte, Borte, Fasshauer, Hauenherm, Kellner, Müller, Ülzen, Bader, Bakhtiar, Lee, Heß, Schubert, Wölke, Zielen, Ghosh, Laws, Neubert, Oommen, Hönig, Schulz, Steinmann, Schwarz, Dückers, Lamers, Langemeyer, Niehues, Shai, Graf, Müglich, Schmalzing, Schwaneck, Tony, Dirks, Haase, Liese, Morbach, Foell, Hellige, Wittkowski, Masjosthusmann, Mohr, Geberzahn, Hedrich, Müller, Rösen-Wolff, Roesler, Zimmermann, Behrends, Rieber, Schauer, Handgretinger, Holzer, Henes, Kanz, Boesecke, Rockstroh, Schwarze-Zander, Wasmuth, Dilloo, Hülsmann, Schönberger, Schreiber, Zeuner, Ankermann, von Bismarck, Huppertz, Kaiser-Labusch, Greil, Jakoby, Kulozik, Metzler, Naumann-Bartsch, Sobik, Graf, Heine, Kobbe, Lehmberg, Müller, Herrmann, Horneff, Klein, Peitz, Schmidt, Bielack, Groß-Wieltsch, Classen, Klasen, Deutz, Kamitz, Lassay, Tenbrock, Wagner, Bernbeck, Brummel, Lara-Villacanas, Münstermann, Schneider, Tietsch, Westkemper, Weiß, Kramm, Kühnle, Kullmann, Girschick, Specker, Vinnemeier-Laubenthal, Haenicke, Schulz, Schweigerer, Müller, Stiefel, Belohradsky, Soetedjo, Kindle and Grimbacher. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
HeBIS PPN:453727069
Institutes:Medizin
Dewey Decimal Classification:610 Medizin und Gesundheit
Sammlungen:Universitätspublikationen
Licence (German):License LogoCreative Commons - Namensnennung 4.0

$Rev: 11761 $