Update in Primary Immunodeficiencies

Update in Primary Immunodeficiencies


  • Lucia Leonardi Maternal, Infantile and Urological Sciences Department, Sapienza University of Rome, Rome, Italy
  • Beatrice Rivalta Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy; Immunology and Infectious Disease Unit, University Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy
  • Caterina Cancrini Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy; Immunology and Infectious Disease Unit, University Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy
  • Elena Chiappini Division of Paediatric Infectious Disease, Anna Meyer Children's University Hospital, Department of Health Sciences, University of Florence, Florence, Italy
  • Claudio Cravidi Agenzia Tutela della Salute, ATS (National Healthcare System), Pavia, Italy
  • Carlo Caffarelli Pediatric Clinic, Department of Medicine and Surgery, University of Parma, Parma, Italy
  • Sara Manti Unit of Pediatric Genetics and Immunology, Department of Pediatrics, University of Messina, Messina, Italy; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Mauro Calvani Operative Unit of Pediatrics, S. Camillo-Forlanini Hospital, Rome, Italy
  • Alberto Martelli Department of Pediatrics, G.Salvini Hospital, Garbagnate Milanese, Milan – Italy
  • Michele Miraglia del Giudice Department of Woman, Child and of General and Specialized Surgery. University of Campania "Luigi Vanvitelli" Naples, Italy
  • Marzia Duse Maternal, Infantile and Urological Sciences Department, Sapienza University of Rome, Rome, Italy
  • Gian Luigi Marseglia Pediatric Clinic Department of Pediatrics, Fondazione IRCCS Policlinico S. Matteo, University of Pavia, Pavia, Italy
  • Fabio Cardinale Department of Pediatrics and Emergency, Pediatric Allergy and Pulmunology Unit, Azienda Ospedaliera-Universitaria Consorziale-Policlinico, Ospedale Pediatrico Giovanni XXIII, Bari, Italy


immune dysregulation, autoimmunity, IPEX-like, ALPS-like, APDS1-2, CTLA-4 haploinsufficiency, LRBA deficiency, RAG1-2


Primary immunodeficiencies (PIDs) are inherited disorders classically characterized by increased susceptibility to infections. Nevertheless, in the last two decades, genomic analysis (such as NGS) coupled with biochemical and cellular studies led to a more accurate definition for a growing number of novel genetic disorders associated with PIDs. This revealed new aspects of the immune system and its function and regulation within these diseases. In particular, it has been clarified that the clinical features of PIDs are much broader that originally thought and extend beyond an increased susceptibility to infections. More specifi- cally, immune dysregulation is very often described in novel characterized PIDs and can lead to multiple autoimmune diseases, lymphoproliferation and malignancies. If not promptly diagnosed, these could negatively impact patient’s prognosis. The aim of this review is to increase the awareness of recently discovered PIDs, characterized predominantly by immune dysregulation phenotypes. Findings highlighted in this review  suggest screening for immunodeficiency in patients with lymphoproliferation or early onset/multiple autoimmune diseases. Prompt diagnosis would potentially allow most successful treatment and clinical outcome for patients with PIDs.


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How to Cite

Leonardi L, Rivalta B, Cancrini C, Chiappini E, Cravidi C, Caffarelli C, et al. Update in Primary Immunodeficiencies. Acta Biomed [Internet]. 2020 Sep. 15 [cited 2024 Jul. 22];91(11-S):e2020010. Available from: https://www.mattioli1885journals.com/index.php/actabiomedica/article/view/10314