European Society for Immunodeficiencies

The ESID Genetic Working Party wants to help to connect and support the collaborative clinical, genetic laboratories and research units associated with the ESID society. In order to facilitate access to information for genetic evaluation on primary immunodeficiencies (PIDs) to the clinicians and ESID members for their patients, the ESID working party defined 5 specific aims:

1) First, identify the different laboratories in Europe and abroad which perform genetic analysis for PIDs and define the PIDs.
2) Second, identify the different laboratories in Europe and abroad which propose prenatal genetic analysis for PIDs and for which PIDs.
3) Third, provide this information on the ESID Website to ESID members
4) Fourth, develop consensus statements for genetic diagnosis of PIDs
5) Fifth, establish links from the ESID website to various immunodeficiency websites and genetic laboratories about the already identified mutations in PID genes.

The exchange of genetic diagnostic tools will improve the diagnosis and the genetic counselling of patients with PIDs which are important for the patients’ support and care. Moreover, in the context of the technological advances in genomics, it is an exciting challenge to develop these new applications for the diagnosis and research of new PIDs. The ESID Genetics WP wants to be a link between clinicians, immunologists and scientists to help in the diagnosis of new PIDs and also to develop trials (i.e. on clinical and genetic correlation of specific PIDs). The Genetics working party closely collaborates with the other ESID working parties.

How to participate?
The Genetics WP regularly meets during the biennial ESID meetings and any ESID member clinician can participate and propose trials to the head of the Genetics WP.