CORDIS Project
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This project investigates the genetic basis of BILU syndrome, a primary immunodeficiency disorder. It aims to understand how a specific mutation affects nuclear receptor signaling and gene transcription, using patient-derived cells and advanced genetic techniques.
The BILU syndrome is an autosomal dominant primary immunodeficiency that combines B cells Immunodeficiency, Limb abnormalities and Urogenital malformations.
Recently, we discovered the genetic basis of this disorder using whole exome sequencing.
The causative mutation affects the protein that is involved in mediating transcriptional responses after activation of nuclear receptors (e.g. sex hormone receptors).
Altered signalling via nuclear receptors is likely to impact a wide range of genes impl…
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