The ESID online database for primary immunodeficiencies. First analyses with regard to Germany and Europe;Die ESID-online-datenbank für primäre immundefekte. Erste analysen mit blick auf Deutschland und Europa

Medizinische Klinik

Volumn 103, Issue 9, 2008, Pages 620-627

  Knerr, Viviane ^a,b   Gathmann, Benjamin ^a   Eades Perner, Anne Marie ^a   Kindle, Gerhard ^a   Grimbacher, Bodo ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Clinical studies; ESID; Online database; Primary immunodeficiency; Registry

Indexed keywords

IMMUNOGLOBULIN;

ARTICLE; COMMON VARIABLE IMMUNODEFICIENCY; DATA BASE; DIAGNOSTIC PROCEDURE; DRUG INDUSTRY; EUROPEAN UNION; GERMANY; HOSPITAL ADMISSION; HOSPITALIZATION; HUMAN; IMMUNOTHERAPY; MAJOR CLINICAL STUDY; MEDICAL DOCUMENTATION; ONLINE SYSTEM; QUALITY OF LIFE; WEB BROWSER;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CLINICAL TRIALS AS TOPIC; COHORT STUDIES; COMMON VARIABLE IMMUNODEFICIENCY; DATABASES AS TOPIC; EUROPEAN UNION; FEMALE; GERMANY; HUMANS; IMMUNOGLOBULINS; IMMUNOGLOBULINS, INTRAVENOUS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INJECTIONS, SUBCUTANEOUS; INTERNET; MALE; MIDDLE AGED; QUALITY OF LIFE; REGISTRIES; TREATMENT OUTCOME;

EID: 52949093862     PISSN: 07235003     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00063-008-1100-5     Document Type: Article

References (24)

1. Notarangelo L, Casanova JL, Conley ME, et al., for the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol 2006;117:883-96.
2. Stray-Pedersen A, Abrahamsen TG, Froland SS. Primary immunodeficiency diseases in Norway. J Clin Immunol 2000;20:477-85.
3. Winkelstein JA, Marino MC, Johnston RB Jr, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 2000;79:155-69.
4. Baumgart KW, Britton WJ, Kemp A, et al. The spectrum of primary immunodeficiency disorders in Australia. J Allergy Clin Immunol 1997;100:415-23.
5. Matamoros Flori N, Mila Llambi J, Espanol Boren T, et al. Primary immunodeficiency syndrome in Spain: first report of the national registry in children and adults. J Clin Immunol 1997;17:333-9.
6. Ryser O, Morell A, Hitzig WH. Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children. J Clin Immunol 1988;8.479-85.
7. Fasth A. Primary immunodeficiency disorders in Sweden: cases among children, 1974-1979. J Clin Immunol 1982;2:86-92.
8. IUIS Scientific Committee. Report on primary immunodeficiency diseases. Clin Exp Immunol 1999;118:Suppl 1:1-28.
9. Seymour B, Miles J, Haeney M. Primary antibody deficiency and diagnostic delay. J Clin Pathol 2005;58:546-7.
10. Thickett KM, Kumararatne DS, Banerjee AK, et al. Common variable immune deficiency: respiratory manifestations, pulmonary function and high-resolution CT scan findings. Q J Med 2002;95:655-62.
11. Smith CIE, Ochs HD, Puck JM. Genetically determined immunodeficiency diseases: a perspective. In Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency diseases. A molecular and genetic approach. Oxford: Oxford University Press, 1999:3-12.
12. Buckley R. Variable phenotypic expression of mutations in genes of the immune system. J Clin Immunol 2005;115:2974-6.
13. Janssen R, van Wengen A, Hoeve MA, et al. The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. J Exp Med 2004;200:559-68.
14. Maraschio P. Genetic heterogeneity for a Nijmegen breakage-like syndrome. Clin Genet 2003;63:283-90.
15. Abedi M. Report from the ESID Registry of Primary Immunodeficiencies. The Source 2003;Feb/Mar, 8-9.
16. Guzman D, Veit D, Knerr V, et al. The ESID Online Database network. Bioinformatics 2007;23:654-5.
17. Eades-Perner AM, Gathmann B, Knerr V, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2004-06. Clin Exp Immunol 2007;147:306-12.
18. Plebani A, Soresina A, Rondelli R, et al., Italian Pediatric Group for XLA-AIEOP. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicentre study. Clin Immunol 2002;104:221-30.
19. ICD-10 codes, terms and text. Geneva: World Health Organization, 1992-1994.
20. Reng CM, Debold P, Specker C, et al. Generische Lösungen zum Datenschutz für die Forschungsnetze in der Medizin. Berlin: Medizinisch Wissenschaftliche Verlagsgesellschaft (MWV), 2006.
21. Piirilä H, Väliaho J, Vihinen M. Immunodeficiency Mutation Databases (IDbases), Hum Mutat 2006;27:1200-8.
22. Blore J, Haeney MR. Primary antibody deficiency and diagnostic delay. BMJ 1989;298:516-7.
23. De Vries E, Clinical Working Party of the European Society for Immunodeficiencies (ESID). Patient-centered screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin Exp Immunol 2006;145:204-14.
24. Sewell WA, Khan S, Dore PC. Early indicators of immunodeficiency in adults and children: protocols for screening for primary immunological defects. Clin Exp Immunol 2006;145:201-3.