Severe PID With Lymphoproliferation and Neutropenia
Not Applicable
Completed
- Conditions
- Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)
- Registration Number
- NCT03427593
- Lead Sponsor
- University Hospital, Strasbourg, France
- Brief Summary
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
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 27
Inclusion Criteria
Not provided
Exclusion Criteria
Not provided
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- PARALLEL
- Primary Outcome Measures
Name Time Method Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes. Day 0 (inclusion) Target-NGS
Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy. Day 0 (inclusion) WES (Whole exome sequencing), If no known mutations is founded by T-NGS
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. Day 0 (inclusion)
- Secondary Outcome Measures
Name Time Method 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 Day 0 (inclusion) After WES analyses
Trial Locations
- Locations (1)
Service d'Immunologie Clinique et VIH - Hôpital Civil
🇫🇷Strasbourg, France
Service d'Immunologie Clinique et VIH - Hôpital Civil🇫🇷Strasbourg, France