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, please find below a list of laboratories which are caring out genetic explorations for PIDs.
The list of genes performed by this laboratories are available in the excel file enclosed and availabe for download below.
Prenatal diagnosis can be done in Ulm and Paris laboratories, if the mutation of the index patient is known.
Laboratories:
– Institute for Clinical Transfusion Medicine and Immunogenetics, University Hospital of Ulm Dept. of Molecular Diagnostics, Molecular Therapy and Experimental Transplantation, Ulm Germany.
Contact: k.schwarz@blutspende.de
Tel. +49 (0)731/150-599, Fax: +49 (0) 731/150-645
– Medical Immunologist, University Medical Center Utrecht, Dept. Medical Immunology UTRECHT, The Netherlands.
Contact: lcorput@umcutrecht.nl
Tel.+ 31(0)88 – 755 6573
– Study center for primary immunodeficiency (CEDI), Necker Hospital, Paris, France
Contact: capucine.picard@nck.aphp.fr or capucine.picard@inserm.fr
Tel. + 33 (0) 1 44 49 50 88
Useful links:
Databases for immunodeficiency-causing mutations
The portal for rare diseases and orphan drugs
RAPID: Resource of Primary Immunodeficiency Diseases
USIDNet
CEREDIH
