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Article

Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation.

APMIS : acta pathologica, microbiologica, et immunologica Scandinavica - 1 Dec 2006

Milman Nils, Andersen Claus B, Hansen Annette, van Overeem Hansen Thomas, Nielsen Finn C, Fledelius Hans, Ahrens Peter, Nielsen Ole Haagen

Abstract excerpt

Blau syndrome is a hereditary granulomatous disease caused by mutations in the CARD15 gene that is diagnosed in children of young age with exanthema/erythema, arthritis/periarthritis and/or uveitis. We report two cases of Blau syndrome in Danish Caucasian monozygotic male twins, exhibiting a heterozygous de novo R334W mutation in codon 334 of CARD15. The patients were initially diagnosed as having sarcoidosis. In...

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Identifiers

PMID: 17207093
DOI: 10.1111/j.1600-0463.2006.apm_522.x

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TNF

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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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