The purpose of this study is to analyse the phenotype in a sub-population of adults with severe primary immunodeficiency with lymphoproliferation and neutropenia and to decipher the possible pathways involved, especially under the hypothesis of a CTLA4/LRBA schema
Age range
18 Years
Sex
ALL
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The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.
Timeframe: Day 0 (inclusion)
Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy.
Timeframe: Day 0 (inclusion)
Validation or not of a pathological pathway involving CTLA4/LRBA or a related pathway in T-cells. Validation by the mean of functional analysis of T-cells in vitro of CTLA4 expression and response to stimulation. RNA-sequencing in sorted cells.
Timeframe: Day 0 (inclusion)