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Review
. 2023 Mar 19;10(3):588.
doi: 10.3390/children10030588.

Autoimmune Polyendocrine Syndromes in the Pediatric Age

Roberto Paparella  1 , Michela Menghi  1 , Ginevra Micangeli  1 , Lucia Leonardi  1 , Giovanni Profeta  1 , Francesca Tarani  2 , Carla Petrella  3 , Giampiero Ferraguti  2 , Marco Fiore  3 , Luigi Tarani  1
Affiliations
Review

Autoimmune Polyendocrine Syndromes in the Pediatric Age

Roberto Paparella et al. Children (Basel). .

Abstract

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.

Keywords: autoantibodies; autoimmune; children; immunodeficiency; pediatrics; polyendocrinopathy; polyglandular.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Main manifestations of autoimmune polyendocrine syndromes. Abbreviations: APS, autoimmune polyglandular syndrome; IPEX, immune dysregulation, polyendocrinopathy, enteropathy, X-linked; CMC, chronic mucocutaneous candidiasis; HP, hypoparathyroidism; AD, Addison disease; T1DM, type 1 diabetes mellitus; AITD, autoimmune thyroid disease.
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References

    1. Eisenbarth G.S., Gottlieb P.A. Autoimmune Polyendocrine Syndromes. N. Engl. J. Med. 2004;350:2068–2079. doi: 10.1056/NEJMra030158. - DOI - PubMed
    1. Neufeld M., Maclaren N., Blizzard R. Autoimmune polyglandular syndromes. Pediatr. Ann. 1980;9:154–162. doi: 10.3928/0090-4481-19800401-07. - DOI - PubMed
    1. Michels A.W., Gottlieb P.A. Autoimmune polyglandular syndromes. Nat. Rev. Endocrinol. 2010;6:270–277. doi: 10.1038/nrendo.2010.40. - DOI - PubMed
    1. Bousfiha A., Moundir A., Tangye S.G., Picard C., Jeddane L., Al-Herz W., Rundles C.C., Franco J.L., Holland S.M., Klein C., et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J. Clin. Immunol. 2022;42:1508–1520. doi: 10.1007/s10875-022-01352-z. - DOI - PubMed
    1. Guo C.-J., Leung P.S.C., Zhang W., Ma X., Gershwin M.E. The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1) Autoimmun. Rev. 2018;17:78–85. doi: 10.1016/j.autrev.2017.11.012. - DOI - PubMed

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