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
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Enrollment
27
FACS analyses
Target Sequencing by NGS ( Next-generation sequencing)
Whole Exome Sequencing
Service d'Immunologie Clinique et VIH - Hôpital Civil
Strasbourg, France
Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.
Target-NGS
Time frame: Day 0 (inclusion)
Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy.
WES (Whole exome sequencing), If no known mutations is founded by T-NGS
Time frame: 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.
Time frame: Day 0 (inclusion)
Deciphering of new possible genes involved in the phenotype : Patient without known mutation in genes involved in PID will benefit of an extended analyse of the WES to find a possible condidate genes
After WES analyses
Time frame: Day 0 (inclusion)
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