Report from the ESID registry of primary immunodeficiencies

Abedi, M

doi:10.1016/s0161-5890(98)90342-x

Cited by 8 publications

(9 citation statements)

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“…), Norway (patients 52/53 and 55/56), Portugal (patient 37), Sweden (patient 39), Switzerland (patients 35 and 36), and the United Kingdom (patients 44 and 59); one patient's sample (number 40, Table 1) was obtained from Australia. The patients' identification and clinical data were deposited to the Registry of the European Society for Immunodeficiencies (ESID) (Abedi et al, 1995). The patients were all males, aged 1-40 years (average 19.5 years), with age at diagnosis varying at 1-12 years.…”

Section: Materials and Methods Patientsmentioning

confidence: 99%

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X‐linked agammaglobulinemia

et al. 1997

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Section: Materials and Methods Patientsmentioning

confidence: 99%

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X‐linked agammaglobulinemia

et al. 1997

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“…Currently 75 documenting centres in 28 countries have obtained passwords for the online documentation. Two existing registries have been integrated into the database by electronic import: the Italian National PID Registry Associazione Italiana Ematologia Oncologia Pediatrica: (AIEOP); co-ordinator Dr A. Plebani [15]); and the pan-European common variable immunodeficiency (CVID) Registry compiled by Professor Lennart Hammarström at the Karolinska Institute in Huddinge, Sweden [14].…”

Section: Administration and Participating Centresmentioning

confidence: 99%

“…Thus European immunologists formed a network of clinicians and researchers, the European Society for Immunodeficiencies (ESID; http://www.esid.org) to support research on the cause, mechanism and therapy in immunodeficiencies. This in turn led to the development of a registry for PID in 1994 in Sweden, which accumulated data on 9707 patients from 26 European countries [14]. This was a first step in creating a basis for European‐wide research on PID, in particular for clinical studies.…”

Section: Introductionmentioning

confidence: 99%

The European internet-based patient and research database for primary immunodeficiencies: results 2004–06

Eades-Perner

Gathmann

Knerr

et al. 2007

Clinical and Experimental Immunology

103

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SummaryBecause primary immunodeficiencies (PID) are rare diseases, transnational studies are essential to maximize the scientific outcome and lead to improved diagnosis and therapy. Immunologists in Europe have united to determine the prevalence of PID in Europe and to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID as well as to improve the awareness of PID in Europe. In order to achieve this aim we have developed an internet-based database for clinical and research data on patients with PID. This database forms the platform for studies of demographics, the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. The database is completely secure, while providing access to researchers via a standard browser using password and encrypted log-in sessions and conforms to all European and national ethics and data protection guidelines. So far 2386 patients have been documented by 35 documenting centres in 20 countries. Common variable immunodeficiency (CVID) is the most common entity, accounting for almost 30% of all entries. First statistical analyses on the quality of life of patients show the advantages of immunoglobulin replacement therapy, at the same time revealing a mean diagnostic delay of over 4 years. First studies on specific questions on selected PID are now under way. The platform of this database can be used for any type of medical condition.

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“…The number of mutations identi®ed in unrelated families with primary immunode®ciency totals some 2100 [3]. Immuno-de®ciency patient information has been collected in a large registry by ESID (European Society for Immunode®ciencies) [4] and to national patient registries. PID-causing genes have been found from a number of chromosomes.…”

Section: Introductionmentioning

confidence: 99%

Structure‐Function Effects in Primary Immunodeficiencies

2000

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Several immunodeficiency-related genes have been identified and a large number of mutations in these genes. Currently, a genetic defect has been determined in more than 2000 patients. Only recently has it become possible to address structure-function effects of these mutations in the corresponding proteins. The consequences of mutations in structure are discussed for Btk in X-linked agammaglobulinemia (XLA), Jak3 in T-B+ severe combined immunodeficiency (SCID), p47phox and p67phox in autosomal chronic granulomatous disease (CGD) and SH2D1 A in X-linked lymphoproliferatine disease (XLP). The experimental and homology modelling derived structures were used to analyze mechanisms related to these diseases.

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Report from the ESID registry of primary immunodeficiencies

Cited by 8 publications

References 0 publications

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X‐linked agammaglobulinemia

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X‐linked agammaglobulinemia

The European internet-based patient and research database for primary immunodeficiencies: results 2004–06

Structure‐Function Effects in Primary Immunodeficiencies

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