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Article

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.

Journal of clinical immunology - 1 Apr 2023

Wyatt Rebecca C, Olek Sven, De Franco Elisa, Samans Bjoern, Patel Kashyap, Houghton Jayne, Walter Steffi, Schulze Janika, Bacchetta Rosa, Hattersley Andrew T, Flanagan Sarah E, Johnson Matthew B

Abstract excerpt

Pathogenic FOXP3 variants cause immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, a progressive autoimmune disease resulting from disruption of the regulatory T cell (Treg) compartment. Assigning pathogenicity to novel variants in FOXP3 is challenging due to the heterogeneous phenotype and variable immunological abnormalities. The number of cells with demethylation at the Treg...

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Identifiers

PMID: 36600150
DOI: 10.1007/s10875-022-01428-w
PMCID: PMC9957900

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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