Registry Working Party
This section contains the Registry publication rules and offers a list of publications based on data from the ESID Online Database for Primary Immunodeficiencies.
Publication rules, application form for studies
The following pdf contains the regulations for data access to and publications from the ESID Database for PID. These have been defined by the ESID Registry Steering Committee in June 2012 and updated in April 2014.
In addition, we offer an application form for study initatives wishing to use data from the ESID Database. Please refer to the respective section 'Studies'
Last updated on May 31, 2014
List of publications
The following is a list of publications from the ESID Online Database, listed chronologically, starting with the latest publication.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; ESID Registry Working Party (additional members of this working group who have contributed as authors to this manuscript are listed in the online version).
Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations. J Allergy Clin Immunol. 2021 Apr 22:S0091-6749(21)00654-0. doi: 10.1016/j.jaci.2021.04.015. Online ahead of print. PMID: 33895260
Scheible R, Kadioglu D, Ehl S, Blum M, Boeker M, Folz M, Grimbacher B, Göbel J, Klein C, Nieters A, Rusch S, Kindle G, Storf H. Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry. JMIR Med Inform. 2020 Oct 7;8(10):e17420. doi: 10.2196/17420. PMID: 33026355; PMCID: PMC7578818.
Shai S, Perez-Becker R, Andres O, Bakhtiar S, Bauman U, von Bernuth H, Classen CF, Dückers G, El-Helou SM, Gangfuß A, Ghosh S, Grimbacher B, Hauck F, Hoenig M, Husain RA, Kindle G, Kipfmueller F, Klemann C, Krüger R, Lainka E, Lehmberg K, Lohrmann F, Morbach H, Naumann-Bartsch N, Oommen PT, Schulz A, Seidemann K, Speckmann C, Sykora KW, von Kries R, Niehues T.
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie. J Clin Immunol. 2020 Jul;40(5):708-717. doi: 10.1007/s10875-020-00782-x. Epub 2020 May 26. PMID: 32458183.
Gasteiger LM, Robinson PN, Pazmandi J, Boztug K, Seppänen MRJ, Seidel MG; Registry Working Party of the European Society for Immunodeficiencies (ESID)
Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms. J Allergy Clin Immunol Pract. 2020 May;8(5):1778. doi: 10.1016/j.jaip.2020.02.019. PMID: 32389282
Tesch, Victoria Katharina et al., Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score, J Allergy Clin Immunol. 2020 May;145(5):1452-1463. doi: 10.1016/j.jaci.2019.12.896. Epub 2019 Dec 27. PMID: 31887391
Sabine M. El-Helou, et al., Front. Immunol., 19 July 2019, The German National Registry of Primary Immunodeficiencies (2012-2017) PMID: 31379802
Scheible R, Rusch S, Guzman D, Mahlaoui N, Ehl S, Kindle G., Bioinformatics. 2019 Dec 15;35(24):5367-5369. doi: 10.1093/bioinformatics/btz525. The NEW ESID Online Database Network. PMID: 31263866
Seidel MG, Kindle G, Gathmann B, et al., J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1763-1770. doi: 10.1016/j.jaip.2019.02.004. Epub 2019 Feb 15, The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. PMID: 30776527
Mahlaoui N, Picard C, Bach P et al. , J Allergy Clin Immunol. 2019 Jan 9. pii: S0091-6749(19)30004-1. doi: 10.1016/j.jaci.2018.12.994. [Epub ahead of print] Genetic diagnosis of primary immunodeficiencies: a survey of the French national registry. (PMID: 30639347)
Schütz, K., Alecsandru, D., Grimbacher, B. et al. J Clin Immunol (2018) Dec 13. doi: 10.1007/s10875-018-0577-9. [Epub ahead of print], Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group. PMID 30547383
Odnoletkova I, Kindle G, Quinti I, Grimbacher B, Knerr V, Gathmann B, Ehl S, Mahlaoui N, Van Wilder P, Bogaerts K, de Vries E; Plasma Protein Therapeutics Association (PPTA) Taskforce. Orphanet J Rare Dis. 2018 Nov 12;13(1):201. The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data. (PMID: 30419968)
Lowe DM, Hurst JR. Primary immunodeficiency. In: Chalmers JD, Polverino E, Aliberti S, eds. Bronchiectasis (ERS Monograph). Sheffield, European Respiratory Society, 2018; pp. 153–166 [ https://doi.org/10.1183/2312508X.10015917].
Shillitoe B et al., Clinical & Experimental Immunology (2018), The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017. (direct link to article) (PMID: 29878323 [Available on 2019-06-01])
Maccari ME et al., Frontiers in Immunology (2018), Disease evolution and response to rapamycin in Activated PI3Kδ Syndrome: the ESID-APDS registry. (PMID: 29599784)
Mahlaoui N et al., JACI (2017), Prevalence of primary immunodeficiencies in France is underestimated. (PMID: 28732644)
Pac M et al., Arch Med Sci. (2017), Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children - 34-year experience of a single center. (PMID: 28261296)
Dunogué B et al., Clin Infect Dis. (2017) Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France. (PMID: 28362954)
Fischer A et al., JACI, (2017) Autoimmune and inflammatory manifestations occur frequently in primary immunodeficiencies. ( PMID: 28192146)
Bertinchamp R et al. (Adult DEFI study group). J Allergy Clin Immunol Pract. (2016), Exclusion of Patients with a Severe T-Cell Defect Improves the Definition of Common Variable Immunodeficiency. (PMID: 27522107).
Arslan S Ann Allergy Asthma Immunol. (2016), How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease? (PMID: 26815708)
De Vries E. et al. Orphanet J Rare Dis (2016), Primary immunodeficiency associated with chromosomal aberration - an ESID Survey. (PMID: 27484815)
Barlogis et al (CEREDIH group). J Allergy Clin Immunol (2016), Physical health conditions and quality of life in adults with primary immune deficiency diagnosed during childhood: a nationwide study
Renke J et al., Cent Eur J Immunol. (2016), Transient hypogammaglobulinaemia of infants in children with mastocytosis - strengthened indications for vaccinations. (PMID 27833446)
Schatorjé EJ et al. Orphanet J Rare Dis. (2016) Primary immunodeficiency associated with chromosomal aberration - an ESID survey. ( PMID: 27484815)
Schatorjé EJ et al. J Clin Immunol. (2016) The Challenge of Immunoglobulin-G Subclass Deficiency and Specific Polysaccharide Antibody Deficiency - a Dutch Pediatric Cohort Study. (PMID: 26846287)
Jandus P et al. Rev Med Suisse (2016) [Understanding primary immunodeficiencies: usefulness of a register].[Article in French] (PMID: 27197327)
Pac M, Bernatowska E. Eur J Pediatr. (2016) [Comprehensive activities to increase recognition of primary immunodeficiency and access to immunoglobulin replacement therapy in Poland]. (PMID: 27357411)
Milota T et al. Int Arch Allergy Immunol. (2015) Negativity for Specific Autoantibodies in Patients with Type 1 Diabetes That Developed on a Background of Common Variable Immunodeficiency. (PMID: 26796963)
Brignier AC et al. JACI (2015) Early-onset hypogammaglobulinemia: A survey of 44 patients. (PMID: 25959671)
Marschall K et al. Clin Exp Immunol. (2015) The Swiss National Registry for Primary Immunodeficiencies: Report on the first 6 years' activity 2008-2014. (PMID: 26031847)
Jonkman-Berk BM et al. Clin Immunol. (2015) Primary immunodeficiencies in the Netherlands: National patient data demonstrate the increased risk of malignancy. (PMID: 25451158)
Turley AJ et al. J Clin Immunol.(2015) Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe. (PMID: 25663093)
Aydin SE et al. J Clin Immunol. (2015) DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients. (PMID: 25627830)
Salvator H et al. Eur Respir J. (2015) Pulmonary manifestations in adult patients with chronic granulomatous disease. (PMID: 25614174)
Suarez F et al. J Clin Oncol. (2015) Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. (PMID: 25488969)
Kindle G et al. Curr Opin Allergy Clin Immunol. (2014) The use of databases in primary immunodeficiencies. (PMID: 25225780)
Gathmann B et al. JACI (2014) Clinical picture and treatment of 2212 patients with common variable immunodeficiency. (PMID: 24582312 )
Magnani A et al. J Allergy Clin Immunol. (2014) Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. PMID: 24985400
Schatorjé EJ et al. Clin Exp Immunol. (2014) The PedPAD study: Boys predominate in the hypogammaglobulinemia registry of the ESID Online Database.
Stonebraker JS et al. J Clin Immunol. (2014) Modeling Primary Immunodeficiency Disease Epidemiology and Its Treatment to Estimate Latent Therapeutic Demand for Immunoglobulin.
Grimbacher B Clin Exp Immunol. (2014) The European Society for Immunodeficiencies (ESID) registry 2014. (PMID: 25546747)
Wie häufig sind Immundefekte wirklich? (published in the journal of the German PID patient organisation DSAI (www.dsai.de))
Edgar JD et al. Clinical Experimental Immunology (2013) The United Kingdom Primary Immune Deficiency (UKPID) Registry: Report of the first 4 years' activity 2008-2012.
Verma N et al. Drugs Aging. (2013) Therapeutic Management of Primary Immunodeficiency in Older Patients. (PMID: 23605785)
Includes statistics from the ESID Database.
Mahlaoui N et al. Blood (2013) Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. (PMID: 23264593)
Study by the French CEREDIH using data from its national registry.
Micol R. et al. JACI (2012) Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia. (PMID 22153772)
A retrospective U.S.-European study by the International DiGeorge Syndrome Immunodeficiency Consortium (including data from many ESID Database centres)
Beauté J et al. Pediatr Infect Dis J. (2011) Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France (PMID: 20700078)
Blumental S et al. Clin Infect Dis. (2011) Invasive mold infections in chronic granulomatous disease: a 25-year retrospective survey. Dec;53(12):e159-69. PubMed PMID: 22080130.
Presented at AAAAI meeting in San Francisco, March 2011
Presented at AAAAI meeting in San Francisco, March 2011
X-linked thrombocytopenia (XLT) due to WAS mutations: Clinical characteristics, long-term outcome, and treatment options. (PMID: 20173115)
The French national registry of primary immunodeficiency diseases. (PMID: 20399414)
Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: A cohort study (cites statistics from the ESID Database) (PMID: 19419768 )
Presents results from the ESID, USIDnet and other PID registries (PMID: 19883420)
New epidemiological results from the ESID Database, based on the data of 7,430 patients (November 2008) (PMID: 19630863).
Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: Report of four cases and review of the literature (ESID Database was instrumental in identifying cases) (PMID: 18805740)
Articles on the ESID Database and the UK PID Registry published in the online journal of the International Patient Organisation for Primary Immunodeficiencies (IPOPI - www.ipopi.org)
An article focussing on data from Germany (includes editorial notes). (PMID: 18813884 )
This article reviews recent publications both on PID database systems themselves and the research performed using results from these databases. (PMID: 17989523)
An article published in the journal of the German PID patient organisation DSAI (www.dsai.de).
A technical description of the database system (PMID: 17237056)
First peer-reviewed publication of data in the ESID database (PMID: 17223972)
The earliest article on the ESID Online Database to be published in a scientific journal.
An article published in the newsmagazine of the Plasma Protein Therapeutics Association (PPTA - www.pptaglobal.org)
A "historic" article on the results of the first ESID registry (1992-2002), the forerunner of today's online database. This article was published in the newsmagazine of the Plasma Protein Therapeutics Association (PPTA - www.pptaglobal.org)