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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
NameTimeMethod
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
NameTimeMethod
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 genesDay 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

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