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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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients | Experimental | Patients with the phenotype (PID and Neutropenia and lymphoproliferation) |
|
| relatives (parents) | Other |
| |
| Controls | Sham Comparator |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| FACS analyses | Genetic | FACS analyses |
|
| Measure | Description | Time Frame |
|---|---|---|
| Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes. | Target-NGS | Day 0 (inclusion) |
| Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy. | 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. | Day 0 (inclusion) |
| 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 | After WES analyses | Day 0 (inclusion) |
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Inclusion Criteria :
Exclusion Criteria :
- Secondary immunodeficiency
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service d'Immunologie Clinique et VIH - Hôpital Civil | Strasbourg | 67091 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 28842786 | Result | Guffroy A, Mourot-Cottet R, Gerard L, Gies V, Lagresle C, Pouliet A, Nitschke P, Hanein S, Bienvenu B, Chanet V, Donadieu J, Gardembas M, Karmochkine M, Nove-Josserand R, Martin T, Poindron V, Soulas-Sprauel P, Rieux-Laucat F, Fieschi C, Oksenhendler E, Andre-Schmutz I, Korganow AS; DEFI study group. Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome. J Clin Immunol. 2017 Oct;37(7):715-726. doi: 10.1007/s10875-017-0434-2. Epub 2017 Aug 26. |
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| ID | Term |
|---|---|
| D000081207 | Primary Immunodeficiency Diseases |
| D017074 | Common Variable Immunodeficiency |
| D009503 | Neutropenia |
| D001327 | Autoimmune Diseases |
| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007153 | Immunologic Deficiency Syndromes |
| D007154 | Immune System Diseases |
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| ID | Term |
|---|---|
| D059014 | High-Throughput Nucleotide Sequencing |
| D000073359 | Exome Sequencing |
| ID | Term |
|---|---|
| D017421 | Sequence Analysis |
| D005821 | Genetic Techniques |
| D008919 | Investigative Techniques |
| D000073336 | Whole Genome Sequencing |
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| Target Sequencing by NGS ( Next-generation sequencing) | Genetic | Target Sequencing by NGS ( Next-generation sequencing) |
|
| Whole Exome Sequencing | Genetic | Whole Exome Sequencing |
|
| D000380 | Agranulocytosis |
| D007970 | Leukopenia |
| D000095542 | Cytopenia |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D007960 | Leukocyte Disorders |
| D017422 | Sequence Analysis, DNA |