Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 27
- 试验地点
- 1
- 主要终点
- Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.
研究概览
简要总结
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
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •>18 years old
- •CVID (Common Variable Immunodeficiency)
- •Neutropenia
- •Lymphoproliferation
排除标准
- •- Secondary immunodeficiency
研究组 & 干预措施
Patients
Patients with the phenotype (PID and Neutropenia and lymphoproliferation)
干预措施: FACS analyses (Genetic)
Patients
Patients with the phenotype (PID and Neutropenia and lymphoproliferation)
干预措施: Target Sequencing by NGS ( Next-generation sequencing) (Genetic)
Patients
Patients with the phenotype (PID and Neutropenia and lymphoproliferation)
干预措施: Whole Exome Sequencing (Genetic)
relatives (parents)
干预措施: FACS analyses (Genetic)
relatives (parents)
干预措施: Target Sequencing by NGS ( Next-generation sequencing) (Genetic)
relatives (parents)
干预措施: Whole Exome Sequencing (Genetic)
Controls
干预措施: FACS analyses (Genetic)
结局指标
主要结局
Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.
时间窗: Day 0 (inclusion)
Target-NGS
Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy.
时间窗: 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.
时间窗: Day 0 (inclusion)
次要结局
- 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))