PorteursAntonio RausellAffiliation porteursImagine Institute Paris

Comprehensive genomicand transcriptional characterization of the Autoimmune Lymphoproliferative Syndrome (ALPS): Whole Genome Sequencing and RNA-seq profiling of a representative panel offamilies withclinical incomplete penetrance

The present project is focused on the study of various forms of autoimmune lymphoproliferative syndromes (ALPS) presenting incomplete penetrance. The main goals are:
1. Identification of the genetic modifiers associated with the identified germline mutations by the means of whole genome sequencing (WGS).
2. Analysis of the transcriptome in lymphocytes subsets from patients, healthy carriers and non-carrier relatives, in order to characterize the transcriptional basis of the disease.