Ricerc@Sapienza

The Immunodeficency Centre is dedicated to understanding the genetic, molecular, and immunological mechanisms underlying the Inborn Errors of Immunity (IEIs), a heterogeneous group of rare disorders characterized by defects in immune system development, regulation, and function. These conditions predispose patients to recurrent and severe infections, immune dysregulation, autoimmunity, autoinflammation, allergy, and malignancies.

Our aim is to integrate basic immunology, genomic medicine, and translational clinical research to improve early diagnosis, define disease mechanisms, identify novel biomarkers, and develop personalized therapeutic strategies for patients affected by immune disorders. By combining advanced molecular technologies, functional immunological approaches, and multidisciplinary clinical expertise, we aim to bridge laboratory discoveries with improved patient care.

The group operates within a dedicated clinical and research framework for the diagnosis, treatment, and long-term follow-up of patients with suspected or confirmed primary immunodeficiencies. Through a structured pathway based on regional and international guidelines, patients undergo comprehensive immunological evaluation, molecular and genetic characterization, and personalized therapeutic management. The group provides continuity of care from pediatric to adult age, ensuring lifelong monitoring and access to innovative treatment approaches.

Accurate diagnosis of primary immunodeficiencies requires a multidisciplinary approach integrating clinical evaluation, laboratory immunology, and molecular analysis to improve diagnostic accuracy, reduce diagnostic delay, and establish personalized immune profiles that allow better patient stratification and clinical management.

Beyond susceptibility to infections, many IEIs are characterized by complex immune dysregulation, including autoimmune diseases, chronic inflammation, lymphoproliferation, and immune-mediated organ damage. Together with others national and international groups involved in the study of IEIs our research is investigating the cellular and molecular pathways responsible for abnormal immune activation to identify biomarkers associated with disease severity and the development of targeted immune-modulating therapies.

The research group is closely integrated with the Reference Center for Primary Immunodeficiencies at AOU Policlinico Umberto I, providing a complete diagnostic and therapeutic pathway for patients with suspected or confirmed immune disorders.

The group participates in national and international networks dedicated to rare immune disorders, promoting collaborative research, standardized clinical approaches, and access to innovative diagnostic and therapeutic strategies.

The Immunodeficency Centre is part of the Jeffrey Modell Foundation international network, a global network dedicated to the diagnosis, treatment, and research of primary immunodeficiencies (PIDs), bringing together Centers of Excellence in Immunology worldwide is part of ERN-Rita Network.