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
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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)