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

doi:10.3390/children10030588

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

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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.

Published in Children

ISSN: 2227-9067 (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: http://www.mdpi.com/journal/children

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Abstract

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