| ISSN |
2219-2808 (online) |
| 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: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Immunology |
| Manuscript Type |
Review |
| Article Title |
Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
Valentina Boz, Chiara Zanchi, Laura Levantino, Guglielmo Riccio and Alberto Tommasini |
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Italian Ministry of Health |
RF-2016-02362384 |
| IRCCS Burlo Garofolo |
RC 24/17 |
|
| Corresponding Author |
Alberto Tommasini, MD, PhD, Adjunct Professor, Medical Assistant, Senior Scientist, Department of Pediatrics, Institute of Maternal and Child Health, IRCCS Burlo Garofolo, via dell’Istria 65/1, Trieste 34137, TS, Italy. alberto.tommasini@burlo.trieste.it |
| Key Words |
Overlap syndromes; Autoimmunity; Immunodysregulation; Precision treatments; Primary immunodeficiency diseases; Inborn errors of immunity |
| 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. |
| Publish Date |
2022-03-09 12:30 |
| Citation |
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 |
| URL |
https://www.wjgnet.com/2219-2808/full/v11/i2/136.htm |
| DOI |
https://dx.doi.org/10.5409/wjcp.v11.i2.136 |
