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. 2021 Feb 22;9:612760. doi: 10.3389/fped.2021.612760

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Copyright © 2021 Barzaghi and Passerini.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Diagnostic steps driving toward IPEX syndrome. Ig, immunoglobulin; HbA1c, glycated hemoglobin; FOXP3, forkhead box protein P3; CTLA4, cytotoxic T-lymphocyte protein 4; BACH2, BTB Domain And CNC Homolog 2; TNF, tumor necrosis factor alpha; IL-10, interleukin 10; STAT1, signal transducer and activator of transcription 1; STAT3, signal transducer and activator of transcription 3; IGF1, insulin-like growth factor I; STAT5b, signal transducer and activator of transcription 5b; TSDR, Treg cell-specific demethylated region; NGS, next-generation sequencing; IPEX, immune dysregulation, polyendocrinopathy, enteropathy, X-linked.