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Article

Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.

American journal of human genetics - 12 Mar 2010

Lohr Naomi J, Molleston Jean P, Strauss Kevin A, Torres-Martinez Wilfredo, Sherman Eric A, Squires Robert H, Rider Nicholas L, Chikwava Kudakwashe R, Cummings Oscar W, Morton D Holmes, Puffenberger Erik G

Abstract excerpt

Ubiquitin ligases play an important role in the regulation of the immune system. Absence of Itch E3 ubiquitin ligase in mice has been shown to cause severe autoimmune disease. Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromosome 20 and selected candida...

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Identifiers

PMID: 20170897
DOI: 10.1016/j.ajhg.2010.01.028
PMCID: PMC2833372

Genes

ITCH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20170897-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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