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Article

Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature.

Clinical rheumatology - 1 Feb 2015

La Torre Francesco, Lapadula Giovanni, Cantarini Luca, Lucherini Orso Maria, Iannone Florenzo

Abstract excerpt

Granulomatous autoinflammatory diseases are monogenic syndromes caused by mutations in the region encoding for the nucleotide-binding domain region of the NOD2/CARD15 gene with subsequent dysregulation of the inflammatory response and formation of noncaseous granulomas. They include Blau syndrome (BS) and early-onset sarcoidosis (EOS); both are clinically and genetically indistinguishable between them and they...

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Source

Identifiers

PMID: 24445386
DOI: 10.1007/s10067-014-2493-6

Genes

NOD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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