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Article

Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome.

PloS one - 1 Jan 2013

Lampasona Vito, Passerini Laura, Barzaghi Federica, Lombardoni Carlo, Bazzigaluppi Elena, Brigatti Cristina, Bacchetta Rosa, Bosi Emanuele

Abstract excerpt

Autoantibodies to enterocyte antigens harmonin (75 kDa USH1C protein) and villin (actin-binding 95 kDa protein) are associated with the Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome. In this study we evaluated the diagnostic value of harmonin and villin autoantibodies in IPEX and IPEX-like syndromes. Harmonin and villin autoantibodies were measured by a novel...

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Source

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Identifiers

PMID: 24250806
DOI: 10.1371/journal.pone.0078664
PMCID: PMC3826762

Genes

FOXP3

Variants

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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