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Autoimmune cytopenias resistant to treatment are among the most common clinical manifestations observed in patients with congenital alterations of the immune system, such as primary immunodeficiencies (PI). The exact contribution of immune system alterations to the pathogenesis of autoimmune cytopenias has not yet been fully elucidated. Moreover, conventionally employed therapeutic strategies often fail, leading to increased healthcare costs, high morbidity, and even mortality. Therefore, there is a need to establish clinical guidelines for diagnosis and to identify early biomarkers capable of identifying individuals responsive to therapy. Thus, a systematic approach to the study of such pathologies will allow for the identification of early biomarkers and facilitate the development of targeted therapeutic strategies
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Identification of specific markers | Experimental | Analysis of the immunological profile, Genetic analysis using next-generation sequencing (NGS) technology, Bioinformatic analysis, Functional studies. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Identification of specific markers | Other | Analysis of the immunological profile, Genetic analysis using next-generation sequencing (NGS) technology, Bioinformatic analysis, Functional studies. |
| Measure | Description | Time Frame |
|---|---|---|
| Identification of specific markers | The primary goal is to identify potential primary immunodeficiencies (PI) as responsible for autoimmune cytopenias through a comprehensive examination of clinical manifestations and the study of immune system cells in the patient cohort under investigation. The study will involve immunophenotypic investigation of T and B cell subsets using flow cytometry, the application of genomic approaches, and possibly the use of specific functional immunological tests to confirm and validate genetic results. | Every three to six months |
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Inclusion Criteria:
Additional inclusion criteria for classification into responder vs. non-responder:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of South Florida | Tampa | Florida | 33620 | United States | ||
| Ghent University Hospital |
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| ID | Term |
|---|---|
| D000095542 | Cytopenia |
| ID | Term |
|---|---|
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
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| Ghent |
| Belgium |
| Clinica Pediatrica - Università di Catania | Catania | Italy |
| Meyer Children's Hospital IRCCS | Florence | Italy |
| IRCCS Istituto Giannina Gaslini | Genova | Italy |
| Azienda Ospedaliero Universitaria Pisana | Pisa | Italy |