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

被引：64

作者：

El-Helou, Sabine M. ^{[1
,2
]}

Biegner, Anika-Kerstin ^{[1
]}

Bode, Sebastian ^{[1
,3
]}

Ehl, Stephan R. ^{[1
,3
]}

Heeg, Maximilian ^{[1
,3
]}

Maccari, Maria E. ^{[1
,3
]}

Ritterbusch, Henrike ^{[1
,3
]}

Speckmann, Carsten ^{[1
,3
]}

Rusch, Stephan ^{[1
,4
,5
]}

Scheible, Raphael ^{[1
,6
,7
]}

Warnatz, Klaus ^{[8
,9
]}

Atschekzei, Faranaz ^{[10
]}

Beider, Renata ^{[10
]}

Ernst, Diana ^{[10
]}

Gerschmann, Stev ^{[10
]}

Jablonka, Alexandra ^{[10
]}

Mielke, Gudrun ^{[10
]}

Schmidt, Reinhold E. ^{[10
]}

Schuermann, Gesine ^{[10
]}

Sogkas, Georgios ^{[10
]}

Baumann, Ulrich H. ^{[11
]}

Klemann, Christian ^{[11
]}

Viemann, Dorothee ^{[11
]}

von Bernuth, Horst ^{[12
]}

Krueger, Renate ^{[12
]}

Hanitsch, Leif G. ^{[13
]}

Scheibenbogen, Carmen M. ^{[13
]}

Wittke, Kirsten ^{[13
]}

Albert, Michael H. ^{[14
]}

Eichinger, Anna ^{[14
]}

Hauck, Fabian ^{[14
]}

Klein, Christoph ^{[14
]}

Rack-Hoch, Anita ^{[14
]}

Sollinger, Franz M. ^{[14
]}

Avila, Anne ^{[15
]}

Borte, Michael ^{[15
]}

Borte, Stephan ^{[15
]}

Fasshauer, Maria ^{[15
]}

Hauenherm, Anja ^{[15
]}

Kellner, Nils ^{[15
]}

Mueller, Anna H. ^{[15
]}

Uelzen, Anett ^{[15
]}

Bader, Peter ^{[16
]}

Bakhtiar, Shahrzad ^{[16
]}

Lee, Jae-Yun ^{[16
]}

Hess, Ursula ^{[17
]}

Schubert, Ralf ^{[17
]}

Woelke, Sandra ^{[17
]}

Zielen, Stefan ^{[17
]}

Ghosh, Sujal ^{[18
]}

机构：

[1] Univ Freiburg, Fac Med, Med Ctr, Inst Immunodeficiency,CCI, Freiburg, Germany

[2] Hanover Med Sch, Satellite Ctr Freiburg, RESIST Cluster Excellence 2155, Freiburg, Germany

[3] Univ Freiburg, Fac Med, Med Ctr, Ctr Pediat & Adolescent Med, Freiburg, Germany

[4] Univ Freiburg, Med Ctr, Cent Facil Biobanking, Freiburg, Germany

[5] Univ Freiburg, Fac Med, Freiburg, Germany

[6] Univ Freiburg, Fac Med, Inst Med Biometry & Stat, Freiburg, Germany

[7] Univ Freiburg, Med Ctr, Freiburg, Germany

[8] Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Freiburg, Germany

[9] Univ Freiburg, Fac Med, Med Ctr, Ctr Chron Immunodeficiency, Freiburg, Germany

[10] Hannover Med Sch, Dept Clin Immunol & Rheumatol, Hannover, Germany

[11] Hannover Med Sch, Dept Paediat Pulmonol Allergy & Neonatol, Hannover, Germany

[12] Charite Univ Med Berlin, Dept Pediat Pneumol Immunol & Intens Care, Berlin, Germany

[13] Charite Univ Med Berlin, Inst Med Immunol, Outpatient Clin Immunodeficiencies, Berlin, Germany

[14] Ludwig Maximilians Univ Munchen, Univ Hosp, Dr von Hauner Childrens Hosp, Dept Pediat, Munich, Germany

[15] Univ Leipzig, Acad Teaching Hosp, Hosp St Georg gGmbH Leipzig, ImmunoDeficiencyCtr Leipzig IDCL, Leipzig, Germany

[16] Frankfurt Univ Hosp, Dept Children & Adolescents, Div Stem Cell Transplantat & Immunol, Frankfurt, Germany

[17] Goethe Univ, Univ Hosp, Div Allergol Pneumol & Cyst Fibrosis, Dept Children & Adolescents, Frankfurt, Germany

[18] Heinrich Heine Univ, Univ Childrens Hosp, Med Fac, Dept Pediat Oncol Hematol & Clin Immunol, Dusseldorf, Germany

[19] Univ Med Ctr Ulm, Dept Pediat, Ulm, Germany

[20] Univ Ulm, German Red Cross Blood Serv Baden Wurttemberg Hes, Inst Clin Transfus Med & Immunogenet Ulm, Ulm, Germany

[21] Univ Ulm, Inst Transfus Med, Ulm, Germany

[22] Helios Klinikum Krefeld, Ctr Child & Adolescenct Hlth, Krefeld, Germany

[23] MVZ Dr Reising Ackermann & Kollegen, Leipzig, Germany

[24] Univ Hosp Wurzburg, Dept Internal Med 2, Rheumatol Clin Immunol, Wurzburg, Germany

[25] Univ Hosp Wurzburg, Dept Pediat, Pediat Immunol, Wurzburg, Germany

[26] Univ Childrens Hosp, Dept Pediat Rheumatol & Immunol, Munster, Germany

[27] Univ Childrens Hosp Muenster, Dept Gen Pediat, Munster, Germany

[28] Univ Hosp Muenster, Dept Hematol Oncol & Resp Med, Munster, Germany

[29] Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dept Pediat, Dresden, Germany

[30] Univ Liverpool, Inst Translat Med, Dept Womens & Childrens Hlth, Liverpool, Merseyside, England

[31] Tech Univ Munich, StKM GmbH, Kinderklin Munchen Schwabing, Dept Pediat, Munich, Germany

[32] Tech Univ Munich, Klinikum Rechts Isar, Munich, Germany

[33] Univ Childrens Hosp Tubingen, Dept Oncol Haematol, Tubingen, Germany

[34] Ruhr Univ Bochum, Univ Childrens Hosp, Bochum, Germany

[35] Univ Tubingen Hosp, Dept Internal Med 2, Oncol, Hematol,Rheumatol,Immunol, Tubingen, Germany

[36] Bonn Univ Hosp, Dept Internal Med 1, Bonn, Germany

[37] Bonn Univ Hosp, Dept Paediat Haematol & Oncol, Bonn, Germany

[38] Univ Hosp Schleswig Holstein, Dept Gen Internal Med, Kiel, Germany

[39] Univ Med Ctr Schleswig Holstein, Klin Kinder & Jugendmed 1, Campus Kiel, Kiel, Germany

[40] Klinikum Bremen Mitte, Prof Hess Childrens Hosp, Bremen, Germany

[41] Heidelberg Univ, Dept Pediat Oncol Hematol & Immunol, Heidelberg, Germany

[42] Heidelberg Univ, Hopp Childrens Tumor Ctr, Heidelberg, Germany

[43] Univ Hosp Erlangen, Dept Pediat & Adolescent Med, Div Pediat Hematol & Oncol, Erlangen, Germany

[44] Saarland Univ Homburg, Dept Paediat Haematol & Oncol, Homburg, Germany

[45] Univ Med Ctr Hamburg Eppendorf, Div Pediat Stem Cell Transplantat & Immunol, Hamburg, Germany

[46] Asklepios Clin Sankt Augustin, Dept Pediat, St Augustin, Germany

[47] Univ Hosp Cologne, Med Fac, Dept Pediat & Adolescents Med, Cologne, Germany

[48] Olga Hosp, Klinikum Stuttgart, Ctr Pediat Adolescent & Womens Med, Oncol,Hematol,Immunol,Pediat 5, Stuttgart, Germany

[49] Univ Med Rostock, Dept Children & Adolescents, Oncol Hematol Div, Rostock, Germany

[50] RWTH Univ Hosp, Aachen, Germany

来源：

FRONTIERS IN IMMUNOLOGY | 2019年 / 10卷

关键词：

registry for primary immunodeficiency; primary immunodeficiency (PID); German PID-NET registry; PID prevalence; European Society for Immunodeficiencies (ESID); IgG substitution therapy; CVID; DISORDERS; AFRICA; KUWAIT;

D O I：

10.3389/fimmu.2019.01272

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页数：25

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