eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
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vol. 30

The primary immunodeficiency network on European and national levels – where are we now?

(Centr Eur J Immunol 2005; 30 (3-4):75-77)
Online publish date: 2006/10/10
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JabRef, Mendeley
Papers, Reference Manager, RefWorks, Zotero
Primary immunodeficiencies (PID) are rare chronic diseases. Many of the autosomal recessive forms affect less than 1 in a million individuals, whereas the X-linked recessive forms affect about one in a hundred thousand individuals or less. Thus, each disease affects only a few individuals in each country. However, due to the fact that more than 100 different disease entities are known, all PIDs considered collectively have a significant impact on public health. PIDs, during the past decade have been much more often recognised because of dynamic developments in modern genetic and immunological techniques. Progress in molecular immunology and genetics has enabled the recognition of more defects at the DNA level. Mutation detection is the most reliable method to confirm the diagnosis. Advances in molecular genetic are challenging our classification of PIDs, which is still based on clinical and immunological grounds. It offers hope for gene therapy, which is used with success in numerous diseases, mostly in the severe form of primary immunodeficiency. Adenosine deaminase deficiency was the first hereditary disorder to be treated by gene therapy. Now gene therapy is provided for severe immunodeficiency disease (SCID) patients in a few centres in Europe: in the Institut National de la Sante et de la Recherche Medicale in Paris by Alan Fischer in gamma – chain SCID patients, and also recently by Adrian Thrascher at the Paediatric Immunology Unit at Great Ormond Street Hospital in London. Gene therapy is ongoing in some children and adults with X-linked form of chronic granulomatous diseases, and is provided among others by Reinhard Seger at the University Children’s Hospital in Zurich.
PID network in Europe
The European Group for Immunodeficiencies (EGID) was established in 1983 as an informal group. The first meeting at that time was in Rome, and gathered a small group of immunologists. It was organized by Professor Fernando Aiuti at the Medical Faculty, University of Rome. The second assembly was in Fillervall, near Paris by Professor Claude Griscelli of the Necker Medical School, Paris, the first president of this Group. ESID, as the European Society for Immunodeficiencies, was formed in 1994 and replaced EGID. Polish activity in EGID was present from the beginning. It was marked as a permanent representation of the country in this Group. ESID organize a biennial congress to facilitate international contact between primary...

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