AUTHOR=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 , Atschekzei Faranaz , Beider Renata , Ernst Diana , Gerschmann Stev , Jablonka Alexandra , Mielke Gudrun , Schmidt Reinhold E. , Schürmann Gesine , Sogkas Georgios , 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 , Hauck Fabian , Klein Christoph , Rack-Hoch Anita , Sollinger Franz M. , Avila Anne , Borte Michael , Borte Stephan , Fasshauer Maria , Hauenherm Anja , Kellner Nils , Müller Anna H. , Ülzen Anett , Bader Peter , Bakhtiar Shahrzad , Lee Jae-Yun , Heß Ursula , Schubert Ralf , Wölke Sandra , Zielen Stefan , Ghosh Sujal , Laws Hans-Juergen , Neubert Jennifer , Oommen Prasad T. , Hönig Manfred , Schulz Ansgar , Steinmann Sandra , Schwarz Klaus , Dückers Gregor , Lamers Beate , Langemeyer Vanessa , Niehues Tim , Shai Sonu , Graf Dagmar , Müglich Carmen , Schmalzing Marc T. , Schwaneck Eva C. , Tony Hans-Peter , Dirks Johannes , Haase Gabriele , Liese Johannes G. , Morbach Henner , Foell Dirk , Hellige Antje , Wittkowski Helmut , Masjosthusmann Katja , Mohr Michael , Geberzahn Linda , Hedrich Christian M. , Müller Christiane , Rösen-Wolff Angela , Roesler Joachim , Zimmermann Antje , Behrends Uta , Rieber Nikolaus , Schauer Uwe , Handgretinger Rupert , Holzer Ursula , Henes Jörg , Kanz Lothar , Boesecke Christoph , Rockstroh Jürgen K. , Schwarze-Zander Carolynne , Wasmuth Jan-Christian , Dilloo Dagmar , Hülsmann Brigitte , Schönberger Stefan , Schreiber Stefan , Zeuner Rainald , Ankermann Tobias , Bismarck Philipp von , Huppertz Hans-Iko , Kaiser-Labusch Petra , Greil Johann , Jakoby Donate , Kulozik Andreas E. , Metzler Markus , Naumann-Bartsch Nora , Sobik Bettina , Graf Norbert , Heine Sabine , Kobbe Robin , Lehmberg Kai , Müller Ingo , Herrmann Friedrich , Horneff Gerd , Klein Ariane , Peitz Joachim , Schmidt Nadine , Bielack Stefan , Groß-Wieltsch Ute , Classen Carl F. , Klasen Jessica , Deutz Peter , Kamitz Dirk , Lassay Lisa , Tenbrock Klaus , Wagner Norbert , Bernbeck Benedikt , Brummel Bastian , Lara-Villacanas Eusebia , Münstermann Esther , Schneider Dominik T. , Tietsch Nadine , Westkemper Marco , Weiß Michael , Kramm Christof , Kühnle Ingrid , Kullmann Silke , Girschick Hermann , Specker Christof , Vinnemeier-Laubenthal Elisabeth , Haenicke Henriette , Schulz Claudia , Schweigerer Lothar , Müller Thomas G. , Stiefel Martina , Belohradsky Bernd H. , Soetedjo Veronika , Kindle Gerhard , Grimbacher Bodo
TITLE=The German National Registry of Primary Immunodeficiencies (2012–2017)
JOURNAL=Frontiers in Immunology
VOLUME=10
YEAR=2019
URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2019.01272
DOI=10.3389/fimmu.2019.01272
ISSN=1664-3224
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.