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OpenTrials
Completed

NCT Number: NCT03427593

Severe PID 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

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Key information

Conditions

Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID) Agranulocytosis Autoimmune Diseases Common Variable Immunodeficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cytopenia Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Immune System Diseases Immunologic Deficiency Syndromes Leukocyte Disorders Leukopenia Neutropenia Primary Immunodeficiency Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Service d'Immunologie Clinique et VIH - Hôpital Civil

Strasbourg, 67091, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • Secondary immunodeficiency

Treatment and study plan

FACS analyses

Genetic

FACS analyses

Target Sequencing by NGS ( Next-generation sequencing)

Genetic

Target Sequencing by NGS ( Next-generation sequencing)

Whole Exome Sequencing

Genetic

Whole Exome Sequencing

Primary outcomes

  1. Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.

    Time frame: Day 0 (inclusion)

    Target-NGS

  2. 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

  3. 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)

Secondary outcomes

  1. 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

Sponsors and collaborators

Lead sponsor

University Hospital, Strasbourg, France

Other

Registry information

Official study title

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

Acronym: DICEP

Important dates

Study start
2018
Primary completion
2018
Study completion
2019
First posted
Feb 9, 2018
Registry last updated
Jan 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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