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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

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