H2020Индивидуална стипендия2015–2017

DecipherBILU · Understanding functional mechanisms leading to the BILU syndrome

„Хоризонт 2020“ — Действия „Мария Склодовска-Кюри“

Период: 2015-05-01 → 2017-04-30
Финансиране от ЕС: 183 455 €
Участници: 1
Схема: MSCA-IF-EF-ST

Линиите свързват координатора с партньорите.

Накратко на български

Генетичните мутации, причиняващи синдрома BILU и други първични имунодефицити, определят как се развива и функционира имунната система. Разпознаването на тези промени помага за по-точна диагностика на пациентите и дава насоки за нови методи за тяхното лечение.

Този кратък обзор е генериран от изкуствен интелект

Кратко обяснение, генерирано от езиков модел по текста на CORDIS. Оригиналът е по-долу.

Резултати накратко

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.

Текст от CORDIS, на английски · Данни: CORDIS, © Европейски съюз

Цел на проекта

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.

Оригинален текст от CORDIS (на английски).

Участници

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