Immune tolerance breakdown in inborn errors of immunity: Paving the way to novel therapeutic approaches

Giuliana Giardino; Roberta Romano; Vassilios Lougaris; Riccardo Castagnoli; Francesca Cillo; Lucia Leonardi; Francesco La Torre; Annarosa Soresina; Silvia Federici; Caterina Cancrini; Lucia Pacillo; Elisabetta Toriello; Bianca Laura Cinicola; Stefania Corrente; Stefano Volpi; Gian Luigi Marseglia; Claudio Pignata; Fabio Cardinale; Immunology Task Force of the Italian Society of Pediatric Allergy and Immunology (SIAIP)

doi:10.1016/j.clim.2023.109302

Immune tolerance breakdown in inborn errors of immunity: Paving the way to novel therapeutic approaches

Clin Immunol. 2023 Jun:251:109302. doi: 10.1016/j.clim.2023.109302. Epub 2023 Mar 24.

Authors

Giuliana Giardino¹, Roberta Romano², Vassilios Lougaris³, Riccardo Castagnoli⁴, Francesca Cillo², Lucia Leonardi⁵, Francesco La Torre⁶, Annarosa Soresina⁷, Silvia Federici⁸, Caterina Cancrini⁹, Lucia Pacillo⁹, Elisabetta Toriello², Bianca Laura Cinicola⁵, Stefania Corrente¹⁰, Stefano Volpi¹¹, Gian Luigi Marseglia⁴, Claudio Pignata², Fabio Cardinale⁶; Immunology Task Force of the Italian Society of Pediatric Allergy and Immunology (SIAIP)

Affiliations

¹ Pediatric Section, Department of Translational Medical Sciences, Federico II University, Naples, Italy. Electronic address: [email protected].
² Pediatric Section, Department of Translational Medical Sciences, Federico II University, Naples, Italy.
³ Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy.
⁴ Department of Pediatrics, Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
⁵ Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
⁶ Department of Pediatrics, Giovanni XXIII Pediatric Hospital, University of Bari, Bari, Italy.
⁷ Unit of Pediatric Immunology, Pediatrics Clinic, University of Brescia, ASST Spedali Civili Brescia, Brescia, Italy.
⁸ Division of Rheumatology, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
⁹ Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy; Research Unit of Primary Immunodeficiencies, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
¹⁰ Division of Pediatrics, S. Camillo-Forlanini Hospital, Rome, Italy.
¹¹ Center for Autoinflammatory Diseases and Immunodeficiency, IRCCS Istituto Giannina Gaslini, Università degli Studi di Genova, Genoa, Italy.

PMID: 36967025
DOI: 10.1016/j.clim.2023.109302

Abstract

Up to 25% of the patients with inborn errors of immunity (IEI) also exhibit immunodysregulatory features. The association of immune dysregulation and immunodeficiency may be explained by different mechanisms. The understanding of mechanisms underlying immune dysregulation in IEI has paved the way for the development of targeted treatments. In this review article, we will summarize the mechanisms of immune tolerance breakdown and the targeted therapeutic approaches to immune dysregulation in IEI.

Keywords: Autoimmunity; Immune tolerance; Immunodysregulation; Inborn errors of immunity; T Reg.

Publication types

Review

MeSH terms

Humans
Immune System Diseases* / genetics
Immune System Diseases* / therapy
Immune Tolerance*