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 ORCID: 0000-0003-2067-5569, Warnatz, Klaus, Atschekzei, Faranaz, Beider, Renata, Ernst, Diana, Gerschmann, Stev, Jablonka, Alexandra, Mielke, Gudrun, Schmidt, Reinhold E., Schuermann, Gesine, Sogkas, Georgios, Baumann, Ulrich H., Klemann, Christian, Viemann, Dorothee, von Bernuth, Horst, Krueger, 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, Mueller, Anna H., Uelzen, Anett, Bader, Peter, Bakhtiar, Shahrzad, Lee, Jae-Yun, Hess, Ursula, Schubert, Ralf, Woelke, Sandra, Zielen, Stefan, Ghosh, Sujal, Laws, Hans-Juergen, Neubert, Jennifer, Oommen, Prasad T., Hoenig, Manfred, Schulz, Ansgar, Steinmann, Sandra, Schwarz, Klaus, Dueckers, Gregor, Lamers, Beate, Langemeyer, Vanessa, Niehues, Tim, Shai, Sonu, Graf, Dagmar, Mueglich, 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., Mueller, Christiane, Roesen-Wolff, Angela, Roesler, Joachim, Zimmermann, Antje, Behrends, Uta, Rieber, Nikolaus, Schauer, Uwe, Handgretinger, Rupert, Holzer, Ursula, Henes, Joerg, Kanz, Lothar, Boesecke, Christoph, Rockstroh, Juergen K., Schwarze-Zander, Carolynne, Wasmuth, Jan-Christian, Dilloo, Dagmar, Huelsmann, Brigitte, Schoenberger, Stefan, Schreiber, Stefan, Zeuner, Rainald, Ankermann, Tobias, von Bismarck, Philipp, Huppertz, Hans-Iko, Kaiser-Labusch, Petra, Greil, Johann, Jakoby, Donate, Kulozik, Andreas E., Metzler, Markus, Naumann-Bartsch, Nora, Sobik, Bettina, Graf, Norbert ORCID: 0000-0002-2248-323X, Heine, Sabine, Kobbe, Robin, Lehmberg, Kai, Mueller, 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, Muenstermann, Esther, Schneider, Dominik T., Tietsch, Nadine, Westkemper, Marco, Weiss, Michael, Kramm, Christof, Kuehnle, Ingrid, Kullmann, Silke, Girschick, Hermann, Specker, Christof ORCID: 0000-0003-2504-3229, Vinnemeier-Laubenthal, Elisabeth, Haenicke, Henriette, Schulz, Claudia, Schweigerer, Lothar, Mueller, Thomas G., Stiefel, Martina, Belohradsky, Bernd H., Soetedjo, Veronika, Kindle, Gerhard and Grimbacher, Bodo (2019). The German National Registry of Primary Immunodeficiencies (2012-2017). Front. Immunol., 10. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-3224

Full text not available from this repository.

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((R)) 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
El-Helou, Sabine M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Biegner, Anika-KerstinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bode, SebastianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehl, Stephan R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heeg, MaximilianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maccari, Maria E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ritterbusch, HenrikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Speckmann, CarstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rusch, StephanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scheible, RaphaelUNSPECIFIEDorcid.org/0000-0003-2067-5569UNSPECIFIED
Warnatz, KlausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Atschekzei, FaranazUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beider, RenataUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ernst, DianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gerschmann, StevUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jablonka, AlexandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mielke, GudrunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Reinhold E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schuermann, GesineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sogkas, GeorgiosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Baumann, Ulrich H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klemann, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Viemann, DorotheeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Bernuth, HorstUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krueger, RenateUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hanitsch, Leif G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scheibenbogen, Carmen M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wittke, KirstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Albert, Michael H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eichinger, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hauck, FabianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klein, ChristophUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rack-Hoch, AnitaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sollinger, Franz M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Avila, AnneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borte, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borte, StephanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fasshauer, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hauenherm, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kellner, NilsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller, Anna H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Uelzen, AnettUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bader, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bakhtiar, ShahrzadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, Jae-YunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hess, UrsulaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schubert, RalfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Woelke, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zielen, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ghosh, SujalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Laws, Hans-JuergenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neubert, JenniferUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oommen, Prasad T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoenig, ManfredUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schulz, AnsgarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steinmann, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schwarz, KlausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dueckers, GregorUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lamers, BeateUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Langemeyer, VanessaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Niehues, TimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shai, SonuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Graf, DagmarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueglich, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmalzing, Marc T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schwaneck, Eva C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tony, Hans-PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dirks, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haase, GabrieleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liese, Johannes G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Morbach, HennerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Foell, DirkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hellige, AntjeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wittkowski, HelmutUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Masjosthusmann, KatjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mohr, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Geberzahn, LindaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hedrich, Christian M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller, ChristianeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roesen-Wolff, AngelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roesler, JoachimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zimmermann, AntjeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Behrends, UtaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rieber, NikolausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schauer, UweUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Handgretinger, RupertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Holzer, UrsulaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Henes, JoergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kanz, LotharUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boesecke, ChristophUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rockstroh, Juergen K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schwarze-Zander, CarolynneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wasmuth, Jan-ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dilloo, DagmarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Huelsmann, BrigitteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schoenberger, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schreiber, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zeuner, RainaldUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ankermann, TobiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Bismarck, PhilippUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Huppertz, Hans-IkoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kaiser-Labusch, PetraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Greil, JohannUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakoby, DonateUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kulozik, Andreas E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Metzler, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Naumann-Bartsch, NoraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sobik, BettinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Graf, NorbertUNSPECIFIEDorcid.org/0000-0002-2248-323XUNSPECIFIED
Heine, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kobbe, RobinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lehmberg, KaiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller, IngoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Herrmann, FriedrichUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Horneff, GerdUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klein, ArianeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peitz, JoachimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, NadineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bielack, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gross-Wieltsch, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Classen, Carl F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klasen, JessicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Deutz, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kamitz, DirkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lassay, LisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tenbrock, KlausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wagner, NorbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bernbeck, BenediktUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brummel, BastianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lara-Villacanas, EusebiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muenstermann, EstherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneider, Dominik T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tietsch, NadineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Westkemper, MarcoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weiss, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kramm, ChristofUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kuehnle, IngridUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kullmann, SilkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Girschick, HermannUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Specker, ChristofUNSPECIFIEDorcid.org/0000-0003-2504-3229UNSPECIFIED
Vinnemeier-Laubenthal, ElisabethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haenicke, HenrietteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schulz, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schweigerer, LotharUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller, Thomas G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stiefel, MartinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Belohradsky, Bernd H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soetedjo, VeronikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kindle, GerhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grimbacher, BodoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-134959
DOI: 10.3389/fimmu.2019.01272
Journal or Publication Title: Front. Immunol.
Volume: 10
Date: 2019
Publisher: FRONTIERS MEDIA SA
Place of Publication: LAUSANNE
ISSN: 1664-3224
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
DISORDERS; AFRICA; KUWAITMultiple languages
ImmunologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/13495

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