Severe PID With Lymphoproliferation and Neutropenia (DICEP)

January 6, 2026 updated by: University Hospital, Strasbourg, France

Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia

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 Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

27

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Strasbourg, France, 67091
        • Service d'Immunologie Clinique et VIH - Hôpital Civil

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria :

  • >18 years old
  • CVID (Common Variable Immunodeficiency)
  • Neutropenia
  • Lymphoproliferation

Exclusion Criteria :

- Secondary immunodeficiency

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Sham Comparator: Controls
Genetic: FACS analyses
FACS analyses
Experimental: Patients
Patients with the phenotype (PID and Neutropenia and lymphoproliferation)
Genetic: FACS analyses
FACS analyses
Genetic: Target Sequencing by NGS ( Next-generation sequencing)
Target Sequencing by NGS ( Next-generation sequencing)
Genetic: Whole Exome Sequencing
Whole Exome Sequencing
Other: relatives (parents)
Genetic: FACS analyses
FACS analyses
Genetic: Target Sequencing by NGS ( Next-generation sequencing)
Target Sequencing by NGS ( Next-generation sequencing)
Genetic: Whole Exome Sequencing
Whole Exome Sequencing

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.
Time Frame: Day 0 (inclusion)
Target-NGS
Day 0 (inclusion)
Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy.
Time Frame: Day 0 (inclusion)
WES (Whole exome sequencing), If no known mutations is founded by T-NGS
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)
Day 0 (inclusion)

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Time Frame: Day 0 (inclusion)
After WES analyses
Day 0 (inclusion)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Strasbourg, France

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 13, 2018

Primary Completion (Actual)

March 13, 2018

Study Completion (Actual)

December 5, 2019

Study Registration Dates

First Submitted

January 15, 2018

First Submitted That Met QC Criteria

February 2, 2018

First Posted (Actual)

February 9, 2018

Study Record Updates

Last Update Posted (Estimated)

January 8, 2026

Last Update Submitted That Met QC Criteria

January 6, 2026

Last Verified

September 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 6642

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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