Severe PID With Lymphoproliferation and Neutropenia (DICEP)

University Hospital, Strasbourg, France

Status: Completed

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

Treatments: Genetic: Whole Exome Sequencing; Genetic: FACS analyses; Genetic: Target Sequencing by NGS ( Next-generation sequencing)

Study type: Interventional

Funder types: Other

Identifiers

NCT03427593

6642

Details and patient eligibility

About

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

Enrollment: 27 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria :

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

Exclusion Criteria :

• Secondary immunodeficiency

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

---

27 participants in 3 patient groups

Patients

Experimental group

Description:

Patients with the phenotype (PID and Neutropenia and lymphoproliferation)

Treatment:

Genetic: Target Sequencing by NGS ( Next-generation sequencing)

Genetic: FACS analyses

Genetic: Whole Exome Sequencing

relatives (parents)

Other group

Treatment:

Genetic: Target Sequencing by NGS ( Next-generation sequencing)

Genetic: FACS analyses

Genetic: Whole Exome Sequencing

Controls

Sham Comparator group

Treatment:

Genetic: FACS analyses