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

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: giuliana.giardino@unina.it.
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

Review

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

Giuliana Giardino et al. Clin Immunol. 2023 Jun.

. 2023 Jun:251:109302.

doi: 10.1016/j.clim.2023.109302. Epub 2023 Mar 24.

Authors

Affiliations

¹ Pediatric Section, Department of Translational Medical Sciences, Federico II University, Naples, Italy. Electronic address: giuliana.giardino@unina.it.
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.

PubMed Disclaimer

Cited by

Inborn errors of immunity presenting with lymphoproliferation: lessons from a case series.
Costagliola G, De Marco E, Consonni F, Rocchi V, Legitimo A, Menconi M, Gambineri E, Casazza G, Consolini R. Costagliola G, et al. Ann Hematol. 2025 Jun;104(6):3117-3127. doi: 10.1007/s00277-025-06456-1. Epub 2025 Jun 24. Ann Hematol. 2025. PMID: 40553169 Free PMC article. Review.
The dilemma of X-linked agammaglobulinemia carriers.
Pulvirenti F, Milito C, Cinetto F, Garzi G, Sardella G, Spadaro G, Lippi F, Guarnieri V, Cinicola BL, Carrabba M, Guadagnolo D, Fabio G, Martire B, Cancrini C, Lanzoni G, Finocchi A, Di Matteo G, Pompilii E, Ferrari S, Quinti I. Pulvirenti F, et al. J Allergy Clin Immunol Glob. 2024 Dec 12;4(1):100384. doi: 10.1016/j.jacig.2024.100384. eCollection 2025 Feb. J Allergy Clin Immunol Glob. 2024. PMID: 39867744 Free PMC article.
Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review.
Taietti I, Catamerò F, Lodi L, Giovannini M, Castagnoli R. Taietti I, et al. Curr Opin Allergy Clin Immunol. 2025 Apr 1;25(2):105-114. doi: 10.1097/ACI.0000000000001059. Epub 2025 Feb 13. Curr Opin Allergy Clin Immunol. 2025. PMID: 39945219 Free PMC article. Review.

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- ClinicalKey
- Elsevier Science
Medical
- MedlinePlus Health Information

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

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

Affiliations

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

Authors

Affiliations

Abstract

Similar articles

Cited by

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical

Abstract

Similar articles

Cited by

Publication types

MeSH terms

Related information

LinkOut - more resources

Full Text Sources

Medical