Frontiers in Immunology (Jul 2019)

The German National Registry of Primary Immunodeficiencies (2012–2017)

  • Sabine M. El-Helou,
  • Sabine M. El-Helou,
  • Anika-Kerstin Biegner,
  • Sebastian Bode,
  • Sebastian Bode,
  • Stephan R. Ehl,
  • Stephan R. Ehl,
  • Maximilian Heeg,
  • Maximilian Heeg,
  • Maria E. Maccari,
  • Maria E. Maccari,
  • Henrike Ritterbusch,
  • Henrike Ritterbusch,
  • Carsten Speckmann,
  • Carsten Speckmann,
  • Stephan Rusch,
  • Stephan Rusch,
  • Raphael Scheible,
  • Raphael Scheible,
  • Klaus Warnatz,
  • Klaus Warnatz,
  • Faranaz Atschekzei,
  • Renata Beider,
  • Diana Ernst,
  • Stev Gerschmann,
  • Alexandra Jablonka,
  • Gudrun Mielke,
  • Reinhold E. Schmidt,
  • Gesine Schürmann,
  • Georgios Sogkas,
  • Ulrich H. Baumann,
  • Christian Klemann,
  • Dorothee Viemann,
  • Horst von Bernuth,
  • Renate Krüger,
  • Leif G. Hanitsch,
  • Carmen M. Scheibenbogen,
  • Kirsten Wittke,
  • Michael H. Albert,
  • Anna Eichinger,
  • Fabian Hauck,
  • Christoph Klein,
  • Anita Rack-Hoch,
  • Franz M. 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-Juergen Laws,
  • Jennifer Neubert,
  • Prasad T. Oommen,
  • Manfred Hönig,
  • Ansgar Schulz,
  • Sandra Steinmann,
  • Klaus Schwarz,
  • Gregor Dückers,
  • Beate Lamers,
  • Vanessa Langemeyer,
  • Tim Niehues,
  • Sonu Shai,
  • Dagmar Graf,
  • Carmen Müglich,
  • Marc T. Schmalzing,
  • Eva C. Schwaneck,
  • Hans-Peter Tony,
  • Johannes Dirks,
  • Gabriele Haase,
  • Johannes G. Liese,
  • Henner Morbach,
  • Dirk Foell,
  • Antje Hellige,
  • Helmut Wittkowski,
  • Katja Masjosthusmann,
  • Michael Mohr,
  • Linda Geberzahn,
  • Christian M. Hedrich,
  • Christian M. Hedrich,
  • Christiane Müller,
  • Angela Rösen-Wolff,
  • Joachim Roesler,
  • Antje Zimmermann,
  • Uta Behrends,
  • Nikolaus Rieber,
  • Nikolaus Rieber,
  • Uwe Schauer,
  • Rupert Handgretinger,
  • Ursula Holzer,
  • Jörg Henes,
  • Lothar Kanz,
  • Christoph Boesecke,
  • Jürgen K. 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 E. Kulozik,
  • Markus Metzler,
  • Nora Naumann-Bartsch,
  • Bettina Sobik,
  • Norbert Graf,
  • Sabine Heine,
  • Robin Kobbe,
  • Kai Lehmberg,
  • Ingo Müller,
  • Friedrich Herrmann,
  • Gerd Horneff,
  • Gerd Horneff,
  • Ariane Klein,
  • Ariane Klein,
  • Joachim Peitz,
  • Nadine Schmidt,
  • Stefan Bielack,
  • Ute Groß-Wieltsch,
  • Carl F. 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 Kramm,
  • Ingrid Kühnle,
  • Silke Kullmann,
  • 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,
  • Gerhard Kindle,
  • Bodo Grimbacher,
  • Bodo Grimbacher,
  • Bodo Grimbacher,
  • Bodo Grimbacher

DOI
https://doi.org/10.3389/fimmu.2019.01272
Journal volume & issue
Vol. 10

Abstract

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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.

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