Tailored therapies for primary immunodeficiencies

Tailored therapies for primary immunodeficiencies


  • Bianca Cinicola Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy; Department of Experimental Medicine Sapienza University of Rome, Rome, Italy
  • Federica Pulvirenti Department of Internal Medicine and Infectious Diseases, Regional Reference Centre for Primary Immune Deficencies, Azienda Ospedaliera Universitaria Policlinico Umberto I, Rome, Italy
  • Giulia Brindisi Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy
  • Gian Luigi Marseglia Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Pediatric Unit, Department of Clinical, Surgical, Diagnositc and Pediatric Sciences, University of Pavia, Pavia, Italy
  • Riccardo Castagnoli Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Pediatric Unit, Department of Clinical, Surgical, Diagnositc and Pediatric Sciences, University of Pavia, Pavia, Italy
  • Thomas Foiadelli Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Pediatric Unit, Department of Clinical, Surgical, Diagnositc and Pediatric Sciences, University of Pavia, Pavia, Italy
  • Carlo Caffarelli Pediatric Clinic, Department of Medicine and Surgery, Unversity of Parma, Parma, Italy
  • Amelia Licari Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Pediatric Unit, Department of Clinical, Surgical, Diagnositc and Pediatric Sciences, University of Pavia, Pavia, Italy
  • Michele Miraglia Del Giudice
  • Anna Maria Zicari Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy
  • Marzia Duse Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy; Department of Experimental Medicine Sapienza University of Rome, Rome, Italy
  • Fabio Cardinale Department of Pediatrics, Giovanni XXIII Pediatric Hospital, University of Bari, Bari, Italy


Primary immunodeficiencies, autoimmunity, immune dysregulation, target, tailored treatment, immunoglobulin, gene therapy


Primary immunodeficiency disorders (PIDs) are rare inherited monogenic disorders of the immune system, characterized by an increased risk of infection, immune dysregulation and malignancies. To date, more than 420 PIDs have been identified. The recent introduction of high throughput sequencing technologies has led to identifying the molecular basis of the underlying aberrant immune pathway, and candidate targets to develop precision treatment, aimed at modifying the clinical course of the disease. In PID, targeted therapies are especially effective to manage immune dysregulation and autoimmunity, also reducing the incidence of side effects compared to conventional treatments, sparing the use of steroids and immunosuppressive drugs. Moreover, in the last years, the approach of conventional treatments such as immunoglobulin replacement therapies has evolved and the indication has expanded to new diseases, leading to individualized strategies to both improve infection control and quality of life.  Similarly, the new advent of gene therapy in selected PIDs has introduced the benefit to correct the immunological defect, reducing at the same time the complications related to the hematopoietic stem cell transplantation. Here, we illustrate the most recent findings on tailored treatments for PIDs.


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How to Cite

Tailored therapies for primary immunodeficiencies. Acta Biomed [Internet]. 2021 Nov. 29 [cited 2024 Jun. 23];92(S7):e2021520. Available from: https://mattioli1885journals.com/index.php/actabiomedica/article/view/12406