Boz V, Zanchi C, Levantino L, Riccio G, Tommasini A. Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes. World J Clin Pediatr 2022; 11(2): 136-150 [PMID: 35433297 DOI: 10.5409/wjcp.v11.i2.136]
Corresponding Author of This Article
Alberto Tommasini, MD, PhD, Full Professor, Medical Assistant, Senior Scientist, Department of Medical, Surgical and Health Sciences, University of Trieste, IRCCS Burlo Garofolo, via dell’Istria 65/1, Trieste 34137, Italy. alberto.tommasini@burlo.trieste.it
Research Domain of This Article
Immunology
Article-Type of This Article
Review
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Pediatr. Mar 9, 2022; 11(2): 136-150 Published online Mar 9, 2022. doi: 10.5409/wjcp.v11.i2.136
Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes
Valentina Boz, Chiara Zanchi, Laura Levantino, Guglielmo Riccio, Alberto Tommasini
Valentina Boz, Laura Levantino, Guglielmo Riccio, Alberto Tommasini, Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste 34137, Italy
Chiara Zanchi, Alberto Tommasini, Department of Pediatrics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste 34137, Italy
Author contributions: Boz V and Levantino L wrote the manuscript; Zanchi C discussed the results and revised the manuscript; Riccio G corrected the manuscript draft; Tommasini A coordinated and approved the work.
Supported bythe Italian Ministry of Health RF-2016-02362384; and the IRCCS Burlo Garofolo, No. RC 24/17.
Conflict-of-interest statement: The authors have no conflict of interest.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Alberto Tommasini, MD, PhD, Full Professor, Medical Assistant, Senior Scientist, Department of Medical, Surgical and Health Sciences, University of Trieste, IRCCS Burlo Garofolo, via dell’Istria 65/1, Trieste 34137, Italy. alberto.tommasini@burlo.trieste.it
Received: May 26, 2021 Peer-review started: May 26, 2021 First decision: July 30, 2021 Revised: August 3, 2021 Accepted: January 8, 2022 Article in press: January 8, 2022 Published online: March 9, 2022 Processing time: 286 Days and 19.2 Hours
Core Tip
Core Tip: High-throughput genetic testing have allowed to describe monogenic immune disorders, characterized by combinations of infective, inflammatory, autoimmune, lymphoproliferative, neoplastic features. The term “inborn errors of immunity” (IEIs) is increasingly proposed instead of “primary immunodeficiency” to include defects with a prevalently dysregulatory pathogenesis, resulting in autoimmunity, inflammation, lymphoproliferation, risk of malignancies. It is crucial to widen the awareness of these disorders, as they may mimic multifactorial disorders (rheumatology, gastroenterology, hematology, dermatology, allergology) and some of these are druggable. The awareness of druggable IEIs is the focus of this review, with the aim of favoring a prompter diagnosis and a better cure.
