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
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
53
Analysis of the immunological profile, Genetic analysis using next-generation sequencing (NGS) technology, Bioinformatic analysis, Functional studies.
University of South Florida
Tampa, Florida, United States
Ghent University Hospital
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
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.
Time frame: Every three to six months
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