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Article

Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.

Autoimmunity reviews - 1 Jan 2009

Punzi Leonardo, Furlan Antonio, Podswiadek Marta, Gava Alessandra, Valente Marialuisa, De Marchi Mario, Peserico Andrea

Abstract excerpt

Blau syndrome (BS) is a rare familial disease transmitted as an autosomal dominant trait, characterized by arthritis, uveitis, skin rash and granulomatous inflammation. Until now BS has been observed in 136 persons belonging to 28 families as well as in 4 sporadic cases. The gene responsible for BS has recently been identified in the nucleotide-binding domain (NBD) of caspase recruitment domain (CARD15/NOD2),...

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Source

Identifiers

PMID: 18718560
DOI: 10.1016/j.autrev.2008.07.034

Genes

NOD2

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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Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.PMID 18718560Read ↗

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