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. 2021 Feb 5;9:643094. doi: 10.3389/fped.2021.643094

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Copyright © 2021 Consonni, Ciullini Mannurita and Gambineri.

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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(A) Typical and unusual clinical features in IPEX. Percentages for typical features are based on the most recently published IPEX cohort (6). Classical triad features are in bold. CIDP, Chronic Inflammatory Demyelinating Polyneuropathy; GI, Gastrointestinal. (B) Relationships among atypical IPEX subgroups revealed by our analysis. Subgroup (number of patients); IS, Immunosuppression. (C) FOXP3 gene and protein structure showing mutations associated with mild/late-onset and variable/peculiar IPEX phenotypes.