Journal
CHILDREN-BASEL
Volume 10, Issue 3, Pages -Publisher
MDPI
DOI: 10.3390/children10030588
Keywords
autoimmune; polyendocrinopathy; polyglandular; immunodeficiency; pediatrics; children; autoantibodies
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Autoimmune polyendocrine syndromes (APSs) are rare diseases characterized by autoimmune activity against multiple endocrine or non-endocrine organs. This manuscript aims to present the clinical and epidemiological characteristics of APS-1, APS-2, and IPEX syndrome in pediatric patients, as well as the mechanisms of autoimmunity and currently available treatments for these rare conditions.
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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