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

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.

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

“…From 2014 to 2016, another pilot project was carried out in Heidelberg. Finally, in August 2019 the SCID NBS was implemented nationwide (TREC only) (28). We present the results of the first 14 months of the trans-border cooperation in the field of NBS for SCID and other severe PID in the area of West Pomerania, Poland, and Mecklenburg-Western Pomerania and Brandenburg in Germany.…”

Primary Immunodeficiencies in Russia: Data From the National Registry

“…Yet their reported prevalence varies greatly in different countries, depending on many factors: from data collection methodology to objective epidemiological features. In European countries, the estimated prevalence of PID ranges from 2.7/100,000 in Germany, to 4.16-5.9/100,000 in Switzerland and the United Kingdom (UK), to 8/100,000 in France (3)(4)(5)(6)(7). These numbers are in the range of the "orphan diseases" category.…”

Peripheral Blood Lymphocyte Phenotype Differentiates Secondary Antibody Deficiency in Rheumatic Disease from Primary Antibody Deficiency

“…Its exclusion is required for the diagnosis of primary immunodeficiency disorders (PID) [3]. Common variable immunodeficiency (CVID) is the most common form of symptomatic PID [4,5]. Besides bacterial infections due to primary antibody failure, CVID may manifest with autoimmunity, granulomatous and/or lymphoproliferative disease [6].…”