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

TY - JOUR

T1 - The German National Registry of Primary Immunodeficiencies (2012-2017)

AU - El-Helou, Sabine M

AU - Biegner, Anika-Kerstin

AU - Bode, Sebastian

AU - Ehl, Stephan R

AU - Heeg, Maximilian

AU - Maccari, Maria E

AU - Ritterbusch, Henrike

AU - Speckmann, Carsten

AU - Rusch, Stephan

AU - Scheible, Raphael

AU - Warnatz, Klaus

AU - Atschekzei, Faranaz

AU - Beider, Renata

AU - Ernst, Diana

AU - Gerschmann, Stev

AU - Jablonka, Alexandra

AU - Mielke, Gudrun

AU - Schmidt, Reinhold E

AU - Schürmann, Gesine

AU - Sogkas, Georgios

AU - Baumann, Ulrich H

AU - Klemann, Christian

AU - Viemann, Dorothee

AU - von Bernuth, Horst

AU - Krüger, Renate

AU - Hanitsch, Leif G

AU - Scheibenbogen, Carmen M

AU - Wittke, Kirsten

AU - Albert, Michael H

AU - Eichinger, Anna

AU - Hauck, Fabian

AU - Klein, Christoph

AU - Rack-Hoch, Anita

AU - Sollinger, Franz M

AU - Avila, Anne

AU - Borte, Michael

AU - Borte, Stephan

AU - Fasshauer, Maria

AU - Hauenherm, Anja

AU - Kellner, Nils

AU - Müller, Anna H

AU - Ülzen, Anett

AU - Bader, Peter

AU - Bakhtiar, Shahrzad

AU - Lee, Jae-Yun

AU - Heß, Ursula

AU - Schubert, Ralf

AU - Wölke, Sandra

AU - Zielen, Stefan

AU - Ghosh, Sujal

AU - Laws, Hans-Juergen

AU - Neubert, Jennifer

AU - Oommen, Prasad T

AU - Hönig, Manfred

AU - Schulz, Ansgar

AU - Steinmann, Sandra

AU - Schwarz, Klaus

AU - Dückers, Gregor

AU - Lamers, Beate

AU - Langemeyer, Vanessa

AU - Niehues, Tim

AU - Shai, Sonu

AU - Graf, Dagmar

AU - Müglich, Carmen

AU - Schmalzing, Marc T

AU - Schwaneck, Eva C

AU - Tony, Hans-Peter

AU - Dirks, Johannes

AU - Haase, Gabriele

AU - Liese, Johannes G

AU - Morbach, Henner

AU - Foell, Dirk

AU - Hellige, Antje

AU - Wittkowski, Helmut

AU - Masjosthusmann, Katja

AU - Geberzahn, Linda

AU - Hedrich, Christian M

AU - Müller, Christiane

AU - Rösen-Wolff, Angela

AU - Roesler, Joachim

AU - Zimmermann, Antje

AU - Behrends, Uta

AU - Rieber, Nikolaus

AU - Schauer, Uwe

AU - Handgretinger, Rupert

AU - Holzer, Ursula

AU - Henes, Jörg

AU - Kanz, Lothar

AU - Boesecke, Christoph

AU - Rockstroh, Jürgen K

AU - Schwarze-Zander, Carolynne

AU - Wasmuth, Jan-Christian

AU - Dilloo, Dagmar

AU - Hülsmann, Brigitte

AU - Schönberger, Stefan

AU - Schreiber, Stefan

AU - Zeuner, Rainald

AU - Ankermann, Tobias

AU - von Bismarck, Philipp

AU - Huppertz, Hans-Iko

AU - Kaiser-Labusch, Petra

AU - Greil, Johann

AU - Jakoby, Donate

AU - Kulozik, Andreas E

AU - Metzler, Markus

AU - Naumann-Bartsch, Nora

AU - Sobik, Bettina

AU - Graf, Norbert

AU - Heine, Sabine

AU - Kobbe, Robin

AU - Lehmberg, Kai

AU - Müller, Ingo

AU - Herrmann, Friedrich

AU - Horneff, Gerd

AU - Klein, Ariane

AU - Peitz, Joachim

AU - Schmidt, Nadine

AU - Bielack, Stefan

AU - Groß-Wieltsch, Ute

AU - Classen, Carl F

AU - Klasen, Jessica

AU - Deutz, Peter

AU - Kamitz, Dirk

AU - Lassay, Lisa

AU - Tenbrock, Klaus

AU - Wagner, Norbert

AU - Bernbeck, Benedikt

AU - Brummel, Bastian

AU - Lara-Villacanas, Eusebia

AU - Münstermann, Esther

AU - Schneider, Dominik T

AU - Tietsch, Nadine

AU - Westkemper, Marco

AU - Weiß, Michael

AU - Kramm, Christof

AU - Kühnle, Ingrid

AU - Kullmann, Silke

AU - Girschick, Hermann

AU - Specker, Christof

AU - Vinnemeier-Laubenthal, Elisabeth

AU - Haenicke, Henriette

AU - Schweigerer, Lothar

AU - Müller, Thomas G

AU - Stiefel, Martina

AU - Belohradsky, Bernd H

AU - Soetedjo, Veronika

AU - Kindle, Gerhard

AU - Grimbacher, Bodo

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

U2 - 10.3389/fimmu.2019.01272

DO - 10.3389/fimmu.2019.01272

M3 - SCORING: Journal article

C2 - 31379802

VL - 10

SP - 1272

JO - FRONT IMMUNOL

JF - FRONT IMMUNOL

SN - 1664-3224

ER -