The European internet-based patient and research database for primary immunodeficiencies: Update 2011

B. Gathmann, N. Binder, S. Ehl, G. Kindle, Nizar Mahlaoui, Nathalie Devergnes, Pauline Brosselin, Özden Sanal, Olcay Yegin, Necil Kütükcüler, Sara Sebnem Kilic, Isil B. Barlan, Ismail Reisli, Fabiola Caracseghi, Juan Luis Santos, Pilar Llobet, Javier Carbone, Luis Ignacio Granado Gonzalez, Silvia Sanchez-Ramon, Lourdes TricasNuria Matamoros, Andrew Exley, Dinakantha Kumararatne, Zoe Allwood, Bodo Grimbacher, Hilary Longhurst, Viviane Knerr, Catherine Bangs, Barbara Boardman, Patricia Tierney, Helen Chapel, Luigi D. Notarangelo, Alessandro Plebani, Claudio Pignata, Renate Nickel, Uwe Schauer, Brigitta Späth, Petra Kaiser, Joachim Roesler, Kirsten Bienemann, Richard Linde, Ralf Schubert, Sabine El-Helou, Henrike Ritterbusch, Sigune Goldacker, Marzena Schaefer, Ulrich Baumann, Torsten Witte, Gregor Dückers, Maria Fabhauer, Michael Borte, Gundula Notheis, Bernd H. Belohradsky, Franz Sollinger, Carl Friedrich Classen, Katrin Apel, Sandra Steinmann, Carmen Müglich, Anna Szaflarska, Ewa Bernatowska, Edyta Heropolitanska, Taco W. Kuijpers, Rachel van Beem, Nermeen Mouftah Galal, Shereen Reda, Claire Michele Farber, Isabelle Meyts, Sirje Velbri, Maria Kanariou, Evangelia Farmaki, Efimia Papadopoulou-Alataki, Maria Trachana, Darko Richter, Audra Blaziene, Markus Seidel, Laura Marques, Conleth Feighery, Maria Cucuruz, Julia Konoplyannikova, Olga Paschenko, Anna Shcherbina, Anna Berglöf, Helene Jardefors, Per Wagström, Nicholas Brodszki, Nathan Cantoni, Andrea Duppenthaler, Gaby Fahrni, Miriam Hoernes, Ulrike Sahrbacher, Srdjan Pasic, Peter Ciznar, Anja Koren Jeverica, Jiri Litzman, Eva Hlavackova, Ihor Savchak, Henriette Farkas, Laszlo Marodi

Research output: Contribution to journalArticle

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Abstract

In order to build a common data pool and estimate the disease burden of primary immunodeficiencies (PID) in Europe, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This database is a platform for epidemiological analyses as well as the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. Since its start in 2004, 13708 patients from 41 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity with 2880 patients or 21% of all entries, followed by selective immunoglobulin A (sIgA) deficiency (1424 patients, 10·4%). The total documented prevalence of PID is highest in France, with five patients per 100000 inhabitants. The highest documented prevalence for a single disease is 1·3 per 100000 inhabitants for sIgA deficiency in Hungary. The highest reported incidence of PID per 100000 live births was 16·2 for the period 1999-2002 in France. The highest reported incidence rate for a single disease was 6·7 for sIgA deficiency in Spain for the period 1999-2002. The genetic cause was known in 36·2% of all registered patients. Consanguinity was reported in 8·8%, and 18·5% of patients were reported to be familial cases; 27·9% of patients were diagnosed after the age of 16. We did not observe a significant decrease in the diagnostic delay for most diseases between 1987 and 2010. The most frequently reported long-term medication is immunoglobulin replacement.

Original languageEnglish
Pages (from-to)479-491
Number of pages13
JournalClinical and Experimental Immunology
Volume167
Issue number3
DOIs
Publication statusPublished - Mar 1 2012

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Keywords

  • ESID
  • Epidemiology
  • Online database
  • Primary immunodeficiency
  • Registry

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Gathmann, B., Binder, N., Ehl, S., Kindle, G., Mahlaoui, N., Devergnes, N., Brosselin, P., Sanal, Ö., Yegin, O., Kütükcüler, N., Kilic, S. S., Barlan, I. B., Reisli, I., Caracseghi, F., Santos, J. L., Llobet, P., Carbone, J., Gonzalez, L. I. G., Sanchez-Ramon, S., ... Marodi, L. (2012). The European internet-based patient and research database for primary immunodeficiencies: Update 2011. Clinical and Experimental Immunology, 167(3), 479-491. https://doi.org/10.1111/j.1365-2249.2011.04542.x