Children
(Mar 2023)
Autoimmune Polyendocrine Syndromes in the Pediatric Age
Roberto Paparella,
Michela Menghi,
Ginevra Micangeli,
Lucia Leonardi,
Giovanni Profeta,
Francesca Tarani,
Carla Petrella,
Giampiero Ferraguti,
Marco Fiore,
Luigi Tarani
Affiliations
Roberto Paparella
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Michela Menghi
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Ginevra Micangeli
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Lucia Leonardi
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Giovanni Profeta
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Francesca Tarani
Department of Experimental Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Carla Petrella
Institute of Biochemistry and Cell Biology, IBBC-CNR, 00185 Rome, Italy
Giampiero Ferraguti
Department of Experimental Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Marco Fiore
Institute of Biochemistry and Cell Biology, IBBC-CNR, 00185 Rome, Italy
Luigi Tarani
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
DOI
https://doi.org/10.3390/children10030588
Journal volume & issue
Vol. 10,
no. 3
p.
588
Abstract
Read online
Autoimmune polyendocrine syndromes (APSs) encompass a heterogeneous group of rare diseases characterized by autoimmune activity against two or more endocrine or non-endocrine organs. Three types of APSs are reported, including both monogenic and multifactorial, heterogeneous disorders. The aim of this manuscript is to present the main clinical and epidemiological characteristics of APS-1, APS-2, and IPEX syndrome in the pediatric age, describing the mechanisms of autoimmunity and the currently available treatments for these rare conditions.
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