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A Pediatric Case of Blau Syndrome with NOD2 p.Arg587Cys Mutation Successfully Managed with Infliximab: A Long-Term Follow-Up Study.

Ocular immunology and inflammation - 1 Aug 2026

Sakono Takuto, Mizuki Yuki, Takebayashi Kyouko, Ishihara Mami, Kawagoe Tatsukata, Ohno Shigeaki, Mizuki Nobuhisa

Abstract excerpt

PURPOSE: To describe the long-term ocular and systemic course of a pediatric patient with Blau syndrome carrying aNOD2p.Arg587Cys mutation, and to report the therapeutic response to infliximab after inadequate disease control with adalimumab. METHODS: Single-case report of a girl with genetically confirmed Blau syndrome managed at a tertiary referral center for pediatric uveitis in Japan. Clinical findings,...

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Identifiers

PMID: 42289393
DOI: 10.1080/09273948.2026.2689371

Genes

NOD2
TNF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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