Dataset Information

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.

SUBMITTER: El-Helou SM

PROVIDER: S-EPMC6659583 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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

El-Helou Sabine M SM Biegner Anika-Kerstin AK Bode Sebastian S Ehl Stephan R SR Heeg Maximilian M Maccari Maria E ME Ritterbusch Henrike H Speckmann Carsten C Rusch Stephan S Scheible Raphael R Warnatz Klaus K Atschekzei Faranaz F Beider Renata R Ernst Diana D Gerschmann Stev S Jablonka Alexandra A Mielke Gudrun G Schmidt Reinhold E RE Schürmann Gesine G Sogkas Georgios G Baumann Ulrich H UH Klemann Christian C Viemann Dorothee D von Bernuth Horst H Krüger Renate R Hanitsch Leif G LG Scheibenbogen Carmen M CM Wittke Kirsten K Albert Michael H MH Eichinger Anna A Hauck Fabian F Klein Christoph C Rack-Hoch Anita A Sollinger Franz M FM Avila Anne A Borte Michael M Borte Stephan S Fasshauer Maria M Hauenherm Anja A Kellner Nils N Müller Anna H AH Ülzen Anett A Bader Peter P Bakhtiar Shahrzad S Lee Jae-Yun JY Heß Ursula U Schubert Ralf R Wölke Sandra S Zielen Stefan S Ghosh Sujal S Laws Hans-Juergen HJ Neubert Jennifer J Oommen Prasad T PT Hönig Manfred M Schulz Ansgar A Steinmann Sandra S Schwarz Klaus K Dückers Gregor G Lamers Beate B Langemeyer Vanessa V Niehues Tim T Shai Sonu S Graf Dagmar D Müglich Carmen C Schmalzing Marc T MT Schwaneck Eva C EC Tony Hans-Peter HP Dirks Johannes J Haase Gabriele G Liese Johannes G JG Morbach Henner H Foell Dirk D Hellige Antje A Wittkowski Helmut H Masjosthusmann Katja K Mohr Michael M Geberzahn Linda L Hedrich Christian M CM Müller Christiane C Rösen-Wolff Angela A Roesler Joachim J Zimmermann Antje A Behrends Uta U Rieber Nikolaus N Schauer Uwe U Handgretinger Rupert R Holzer Ursula U Henes Jörg J Kanz Lothar L Boesecke Christoph C Rockstroh Jürgen K JK Schwarze-Zander Carolynne C Wasmuth Jan-Christian JC Dilloo Dagmar D Hülsmann Brigitte B Schönberger Stefan S Schreiber Stefan S Zeuner Rainald R Ankermann Tobias T von Bismarck Philipp P Huppertz Hans-Iko HI Kaiser-Labusch Petra P Greil Johann J Jakoby Donate D Kulozik Andreas E AE Metzler Markus M Naumann-Bartsch Nora N Sobik Bettina B Graf Norbert N Heine Sabine S Kobbe Robin R Lehmberg Kai K Müller Ingo I Herrmann Friedrich F Horneff Gerd G Klein Ariane A Peitz Joachim J Schmidt Nadine N Bielack Stefan S Groß-Wieltsch Ute U Classen Carl F CF Klasen Jessica J Deutz Peter P Kamitz Dirk D Lassay Lisa L Tenbrock Klaus K Wagner Norbert N Bernbeck Benedikt B Brummel Bastian B Lara-Villacanas Eusebia E Münstermann Esther E Schneider Dominik T DT Tietsch Nadine N Westkemper Marco M Weiß Michael M Kramm Christof C Kühnle Ingrid I Kullmann Silke S Girschick Hermann H Specker Christof C Vinnemeier-Laubenthal Elisabeth E Haenicke Henriette H Schulz Claudia C Schweigerer Lothar L Müller Thomas G TG Stiefel Martina M Belohradsky Bernd H BH Soetedjo Veronika V Kindle Gerhard G Grimbacher Bodo B

Frontiers in immunology 20190719

<b>Introduction:</b> 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. <b>Methods:</b> Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry ...[more]

PMID: 31379802

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Project description:Introduction: Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases. Materials and Methods: The Russian PID registry was set up in 2017, by the National Association of Experts in PID (NAEPID). It is a secure, internet-based database that includes detailed clinical, laboratory, and therapeutic data on PID patients of all ages. Results: The registry contained information on 2,728 patients (60% males, 40% females), from all Federal Districts of the Russian Federation. 1,851/2,728 (68%) were alive, 1,426/1,851 (77%) were children and 425/1,851 (23%) were adults. PID was diagnosed before the age of 18 in 2,192 patients (88%). Antibody defects (699; 26%) and syndromic PID (591; 22%) were the most common groups of PID. The minimum overall PID prevalence in the Russian population was 1.3:100,000 people; the estimated PID birth rate is 5.7 per 100,000 live births. The number of newly diagnosed patients per year increased dramatically, reaching the maximum of 331 patients in 2018. The overall mortality rate was 9.8%. Genetic testing has been performed in 1,740 patients and genetic defects were identified in 1,344 of them (77.2%). The median diagnostic delay was 2 years; this varied from 4 months to 11 years, depending on the PID category. The shortest time to diagnosis was noted in the combined PIDs-in WAS, DGS, and CGD. The longest delay was observed in AT, NBS, and in the most prevalent adult PID: HAE and CVID. Of the patients, 1,622 had symptomatic treatment information: 843 (52%) received IG treatment, mainly IVIG (96%), and 414 (25%) patients were treated with biological drugs. HSCT has been performed in 342/2,728 (16%) patients, of whom 67% are currently alive, 17% deceased, and 16% lost to follow-up. Three patients underwent gene therapy for WAS; all are currently alive. Conclusions: Here, we describe our first analysis of the epidemiological features of PID in Russia, allowing us to highlight the main challenges around PID diagnosis and treatment.

Project description:Tremendous progress has been made in the recognition of primary immune deficiencies (PIDs) in Bulgaria since in 2005 we have joined the J Project Central-Eastern European collaborative program. Ten years later an Expert Centre (ExpC) for Rare Diseases - Primary Immune Deficiencies at the University Hospital "Alexandrovska"- Sofia was established. In May 2017 The National Register of Patients with Rare Diseases also became operational as a database containing clinical and genetic information for Bulgarian patients with PID. The transfer of data and information on Bulgarian PID patients to the European Primary Immunodeficiency Database, managed by the European Society for Primary Immunodeficiency (ESID) has started in 2020. The total number of registered patients now is 191 (100 men and 91 women), with more than half of them being children (106; 55.5%). Regular updating of the information in the register showed that 5.2% of patients are deceased and the majority (94.8%) is a subject to continuous monitoring as it has been reported for other European countries as well. With the establishment of the ExpC, the dynamics in the diagnosis and registration of patients with PID significantly intensified. For a period of 5 years (2016-2021) 101 patients were evaluated and registered in comparison with previous period - before ExpC establishment when only 89 patients were diagnosed. The most common pathology was humoral immune deficiency (85 patients; 44.5%). Ninety-six (50.3%) of the patients underwent genetic testing, and 66. 7% had genetically confirmed diagnosis. Three of the variants have not been reported in population databases. Following genetic investigation confirmation of the initial phenotypic diagnosis was achieved in 82.8% of cases and change in the diagnosis - in 17%. Sixty-two patients were on regular replacement or specific therapy, and the rest received symptomatic and supportive treatment. In summary, we present the first epidemiological report of PIDs in Bulgaria, based on the National PID register. Data on the clinical, phenotypic and genetic characteristics of PID patients provided important information about the nature of primary immunodeficiency diseases in our country.

Project description:BackgroundEosinophilia is not an uncommon clinical finding. However, diagnosis of its cause can be a dilemma once common culprits, namely infection, allergy and reactive causes are excluded. Primary immunodeficiency disorders (PID) are among known differentials of eosinophilia. However, the list of PIDs typically reported with eosinophilia is small and the literature lacks an inclusive list of PIDs which have been reported with eosinophilia. This motivated us to review the literature for all PIDs which have been described to have elevated eosinophils as this may contribute to an earlier diagnosis of PID and further the understanding of eosinophilia.MethodsA retrospective PubMed, and Google Scholar search using the terms "eosinophilia" and "every individual PID" as classified by Expert Committee of the International Union of Immunological Societies with the limit of the English language was performed. Results were assessed to capture case(s) which reported eosinophilia in the context of PID conditions. Absolute eosinophil counts (AEC) were retrieved from manuscripts whenever reported.ResultsIn addition to the typical PID conditions described with eosinophilia, we document that MHC class II deficiency, CD3γ deficiency, STAT1 deficiency (AD form), Kostmann disease, cyclic neutropenia, TCRα deficiency, Papillon-Lefevre syndrome, CD40 deficiency, CD40L deficiency, anhidrotic ectodermal dysplasia with immune deficiency, ataxia-telangiectasia, common variable immunodeficiency disorders (CVID), Blau syndrome, CARD9 deficiency, neonatal onset multisystem inflammatory disease or chronic infantile neurologic cutaneous and articular syndrome (NOMID/CINCA), chronic granulomatous disease, MALT1 deficiency and Roifman syndrome have been noted to have elevated eosinophils. Severe eosinophilia (>5.0 × 10(9)/L) was reported in Omenn syndrome, Wiskott Aldrich syndrome, ADA deficiency, autoimmune lymphoproliferative syndrome, immunodysregulation polyendocrinopathy enteropathy X-linked, STAT3 deficiency, DOCK8 deficiency, CD40 deficiency, MHC II deficiency, Kostmann disease, Papillon-Lefevre syndrome, and CVID.ConclusionsThis literature review shows that there is an extensive list of PIDs which have been reported with eosinophilia. This list helps clinicians to consider an extended differential diagnoses when tasked with exclusion of PID as a cause for eosinophilia.

Dataset Information

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

Publications

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

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