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, H. Farkas, L. Máródi

Research output: Contribution to journalArticle

86 Citations (Scopus)

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 2012

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Internet
Databases
Research
Immunoglobulin A
France
Common Variable Immunodeficiency
Consanguinity
Hungary
Incidence
Live Birth
Spain
Immunoglobulins
Genes

Keywords

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

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

Cite this

The European internet-based patient and research database for primary immunodeficiencies : Update 2011. / Gathmann, B.; Binder, N.; Ehl, S.; Kindle, G.; Mahlaoui, Nizar; Devergnes, Nathalie; Brosselin, Pauline; Sanal, Özden; Yegin, Olcay; Kütükcüler, Necil; Kilic, Sara Sebnem; Barlan, Isil B.; Reisli, Ismail; Caracseghi, Fabiola; Santos, Juan Luis; Llobet, Pilar; Carbone, Javier; Gonzalez, Luis Ignacio Granado; Sanchez-Ramon, Silvia; Tricas, Lourdes; Matamoros, Nuria; Exley, Andrew; Kumararatne, Dinakantha; Allwood, Zoe; Grimbacher, Bodo; Longhurst, Hilary; Knerr, Viviane; Bangs, Catherine; Boardman, Barbara; Tierney, Patricia; Chapel, Helen; Notarangelo, Luigi D.; Plebani, Alessandro; Pignata, Claudio; Nickel, Renate; Schauer, Uwe; Späth, Brigitta; Kaiser, Petra; Roesler, Joachim; Bienemann, Kirsten; Linde, Richard; Schubert, Ralf; El-Helou, Sabine; Ritterbusch, Henrike; Goldacker, Sigune; Schaefer, Marzena; Baumann, Ulrich; Witte, Torsten; Dückers, Gregor; Fabhauer, Maria; Borte, Michael; Notheis, Gundula; Belohradsky, Bernd H.; Sollinger, Franz; Classen, Carl Friedrich; Apel, Katrin; Steinmann, Sandra; Müglich, Carmen; Szaflarska, Anna; Bernatowska, Ewa; Heropolitanska, Edyta; Kuijpers, Taco W.; van Beem, Rachel; Galal, Nermeen Mouftah; Reda, Shereen; Farber, Claire Michele; Meyts, Isabelle; Velbri, Sirje; Kanariou, Maria; Farmaki, Evangelia; Papadopoulou-Alataki, Efimia; Trachana, Maria; Richter, Darko; Blaziene, Audra; Seidel, Markus; Marques, Laura; Feighery, Conleth; Cucuruz, Maria; Konoplyannikova, Julia; Paschenko, Olga; Shcherbina, Anna; Berglöf, Anna; Jardefors, Helene; Wagström, Per; Brodszki, Nicholas; Cantoni, Nathan; Duppenthaler, Andrea; Fahrni, Gaby; Hoernes, Miriam; Sahrbacher, Ulrike; Pasic, Srdjan; Ciznar, Peter; Jeverica, Anja Koren; Litzman, Jiri; Hlavackova, Eva; Savchak, Ihor; Farkas, H.; Máródi, L.

In: Clinical and Experimental Immunology, Vol. 167, No. 3, 03.2012, p. 479-491.

Research output: Contribution to journalArticle

Gathmann, B, Binder, N, Ehl, S, Kindle, G, Mahlaoui, N, Devergnes, N, Brosselin, P, Sanal, Ö, Yegin, O, Kütükcüler, N, Kilic, SS, Barlan, IB, Reisli, I, Caracseghi, F, Santos, JL, Llobet, P, Carbone, J, Gonzalez, LIG, Sanchez-Ramon, S, Tricas, L, Matamoros, N, Exley, A, Kumararatne, D, Allwood, Z, Grimbacher, B, Longhurst, H, Knerr, V, Bangs, C, Boardman, B, Tierney, P, Chapel, H, Notarangelo, LD, Plebani, A, Pignata, C, Nickel, R, Schauer, U, Späth, B, Kaiser, P, Roesler, J, Bienemann, K, Linde, R, Schubert, R, El-Helou, S, Ritterbusch, H, Goldacker, S, Schaefer, M, Baumann, U, Witte, T, Dückers, G, Fabhauer, M, Borte, M, Notheis, G, Belohradsky, BH, Sollinger, F, Classen, CF, Apel, K, Steinmann, S, Müglich, C, Szaflarska, A, Bernatowska, E, Heropolitanska, E, Kuijpers, TW, van Beem, R, Galal, NM, Reda, S, Farber, CM, Meyts, I, Velbri, S, Kanariou, M, Farmaki, E, Papadopoulou-Alataki, E, Trachana, M, Richter, D, Blaziene, A, Seidel, M, Marques, L, Feighery, C, Cucuruz, M, Konoplyannikova, J, Paschenko, O, Shcherbina, A, Berglöf, A, Jardefors, H, Wagström, P, Brodszki, N, Cantoni, N, Duppenthaler, A, Fahrni, G, Hoernes, M, Sahrbacher, U, Pasic, S, Ciznar, P, Jeverica, AK, Litzman, J, Hlavackova, E, Savchak, I, Farkas, H & Máródi, L 2012, 'The European internet-based patient and research database for primary immunodeficiencies: Update 2011', Clinical and Experimental Immunology, vol. 167, no. 3, pp. 479-491. https://doi.org/10.1111/j.1365-2249.2011.04542.x
Gathmann, B. ; Binder, N. ; Ehl, S. ; Kindle, G. ; Mahlaoui, Nizar ; Devergnes, Nathalie ; Brosselin, Pauline ; Sanal, Özden ; Yegin, Olcay ; Kütükcüler, Necil ; Kilic, Sara Sebnem ; Barlan, Isil B. ; Reisli, Ismail ; Caracseghi, Fabiola ; Santos, Juan Luis ; Llobet, Pilar ; Carbone, Javier ; Gonzalez, Luis Ignacio Granado ; Sanchez-Ramon, Silvia ; Tricas, Lourdes ; Matamoros, Nuria ; Exley, Andrew ; Kumararatne, Dinakantha ; Allwood, Zoe ; Grimbacher, Bodo ; Longhurst, Hilary ; Knerr, Viviane ; Bangs, Catherine ; Boardman, Barbara ; Tierney, Patricia ; Chapel, Helen ; Notarangelo, Luigi D. ; Plebani, Alessandro ; Pignata, Claudio ; Nickel, Renate ; Schauer, Uwe ; Späth, Brigitta ; Kaiser, Petra ; Roesler, Joachim ; Bienemann, Kirsten ; Linde, Richard ; Schubert, Ralf ; El-Helou, Sabine ; Ritterbusch, Henrike ; Goldacker, Sigune ; Schaefer, Marzena ; Baumann, Ulrich ; Witte, Torsten ; Dückers, Gregor ; Fabhauer, Maria ; Borte, Michael ; Notheis, Gundula ; Belohradsky, Bernd H. ; Sollinger, Franz ; Classen, Carl Friedrich ; Apel, Katrin ; Steinmann, Sandra ; Müglich, Carmen ; Szaflarska, Anna ; Bernatowska, Ewa ; Heropolitanska, Edyta ; Kuijpers, Taco W. ; van Beem, Rachel ; Galal, Nermeen Mouftah ; Reda, Shereen ; Farber, Claire Michele ; Meyts, Isabelle ; Velbri, Sirje ; Kanariou, Maria ; Farmaki, Evangelia ; Papadopoulou-Alataki, Efimia ; Trachana, Maria ; Richter, Darko ; Blaziene, Audra ; Seidel, Markus ; Marques, Laura ; Feighery, Conleth ; Cucuruz, Maria ; Konoplyannikova, Julia ; Paschenko, Olga ; Shcherbina, Anna ; Berglöf, Anna ; Jardefors, Helene ; Wagström, Per ; Brodszki, Nicholas ; Cantoni, Nathan ; Duppenthaler, Andrea ; Fahrni, Gaby ; Hoernes, Miriam ; Sahrbacher, Ulrike ; Pasic, Srdjan ; Ciznar, Peter ; Jeverica, Anja Koren ; Litzman, Jiri ; Hlavackova, Eva ; Savchak, Ihor ; Farkas, H. ; Máródi, L. / The European internet-based patient and research database for primary immunodeficiencies : Update 2011. In: Clinical and Experimental Immunology. 2012 ; Vol. 167, No. 3. pp. 479-491.
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T2 - Update 2011

AU - Gathmann, B.

AU - Binder, N.

AU - Ehl, S.

AU - Kindle, G.

AU - Mahlaoui, Nizar

AU - Devergnes, Nathalie

AU - Brosselin, Pauline

AU - Sanal, Özden

AU - Yegin, Olcay

AU - Kütükcüler, Necil

AU - Kilic, Sara Sebnem

AU - Barlan, Isil B.

AU - Reisli, Ismail

AU - Caracseghi, Fabiola

AU - Santos, Juan Luis

AU - Llobet, Pilar

AU - Carbone, Javier

AU - Gonzalez, Luis Ignacio Granado

AU - Sanchez-Ramon, Silvia

AU - Tricas, Lourdes

AU - Matamoros, Nuria

AU - Exley, Andrew

AU - Kumararatne, Dinakantha

AU - Allwood, Zoe

AU - Grimbacher, Bodo

AU - Longhurst, Hilary

AU - Knerr, Viviane

AU - Bangs, Catherine

AU - Boardman, Barbara

AU - Tierney, Patricia

AU - Chapel, Helen

AU - Notarangelo, Luigi D.

AU - Plebani, Alessandro

AU - Pignata, Claudio

AU - Nickel, Renate

AU - Schauer, Uwe

AU - Späth, Brigitta

AU - Kaiser, Petra

AU - Roesler, Joachim

AU - Bienemann, Kirsten

AU - Linde, Richard

AU - Schubert, Ralf

AU - El-Helou, Sabine

AU - Ritterbusch, Henrike

AU - Goldacker, Sigune

AU - Schaefer, Marzena

AU - Baumann, Ulrich

AU - Witte, Torsten

AU - Dückers, Gregor

AU - Fabhauer, Maria

AU - Borte, Michael

AU - Notheis, Gundula

AU - Belohradsky, Bernd H.

AU - Sollinger, Franz

AU - Classen, Carl Friedrich

AU - Apel, Katrin

AU - Steinmann, Sandra

AU - Müglich, Carmen

AU - Szaflarska, Anna

AU - Bernatowska, Ewa

AU - Heropolitanska, Edyta

AU - Kuijpers, Taco W.

AU - van Beem, Rachel

AU - Galal, Nermeen Mouftah

AU - Reda, Shereen

AU - Farber, Claire Michele

AU - Meyts, Isabelle

AU - Velbri, Sirje

AU - Kanariou, Maria

AU - Farmaki, Evangelia

AU - Papadopoulou-Alataki, Efimia

AU - Trachana, Maria

AU - Richter, Darko

AU - Blaziene, Audra

AU - Seidel, Markus

AU - Marques, Laura

AU - Feighery, Conleth

AU - Cucuruz, Maria

AU - Konoplyannikova, Julia

AU - Paschenko, Olga

AU - Shcherbina, Anna

AU - Berglöf, Anna

AU - Jardefors, Helene

AU - Wagström, Per

AU - Brodszki, Nicholas

AU - Cantoni, Nathan

AU - Duppenthaler, Andrea

AU - Fahrni, Gaby

AU - Hoernes, Miriam

AU - Sahrbacher, Ulrike

AU - Pasic, Srdjan

AU - Ciznar, Peter

AU - Jeverica, Anja Koren

AU - Litzman, Jiri

AU - Hlavackova, Eva

AU - Savchak, Ihor

AU - Farkas, H.

AU - Máródi, L.

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