DecipherBILU · Understanding functional mechanisms leading to the BILU syndrome
Horizon 2020 — Marie Skłodowska-Curie Actions
- Duration
- 2015-05-01 → 2017-04-30
- EU contribution
- €183,455
- Participants
- 1
- Scheme
- MSCA-IF-EF-ST
Lines connect the coordinator with its partners.
Results in brief
Understanding functional mechanisms leading to the BILU syndrome
Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders often caused by monogenic mutations that affect normal immune system function or development. PID patients suffer from frequent, severe infections and may also have autoimmune, autoinflammatory or lymphoproliferative manifestation and dysmorphic features. Discovery of the causative mutations helps with the diagnostics of PID patients and may suggest novel avenues for their treatment. Furthermore, studies of PIDs can advance our understanding of the human immune system.
Data: CORDIS, © European Union
Project objective
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 implicated in development, homeostasis and metabolism leading to the BILU syndrome. In this proposal, we develop a strategy to characterize the impact of the newly discovered mutation on nuclear receptor signalling. We will use analysis of patients’ primary fibroblasts, induced pluripotent stem (iPS) cells and CRISPR-Cas9 edited cell lines to investigate how the mutation impacts transcriptional responses after hormonal stimulations. This project will give insights in the function of the newly identified protein that is involved in the BILU syndrome and will help to understand its broader role in regulation of gene transcription.
Original text from CORDIS.
Participants
- THE CHANCELLOR MASTERS AND SCHOLARS OF THE UNIVERSITY OF CAMBRIDGE · CAMBRIDGECoordinatorUnited Kingdom
Links
- View on CORDIS
- DOI: 10.3030/657633
- https://arquivo.pt/wayback/20201229173402/http://www.med.cam.ac.uk/nejentsev/decipherbilu/
Data: CORDIS, © European Union