Severe PID With Lymphoproliferation and Neutropenia

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

Status

Completed

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT03427593

Acronym

DICEP

Enrollment

Registered

2018-02-09

Start date

2018-03-13

Completion date

2019-12-05

Last updated

2026-01-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)

Keywords

CVID, Neutropenia, Autoimmunity, Lymphoproliferation

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

Interventions

GENETICFACS analyses

FACS analyses

GENETICTarget Sequencing by NGS ( Next-generation sequencing)

Target Sequencing by NGS ( Next-generation sequencing)

GENETICWhole Exome Sequencing

Whole Exome Sequencing

Study design

Allocation

NON_RANDOMIZED

Intervention model

PARALLEL

Primary purpose

BASIC_SCIENCE

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Yes

Inclusion criteria

: * \>18 years old * CVID (Common Variable Immunodeficiency) * Neutropenia * Lymphoproliferation

Exclusion criteria

: \- Secondary immunodeficiency

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026