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Article

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Apr 2016

Mensa-Vilaro Anna, Cham Weng Tarng, Tang Swee Ping, Lim Sern Chin, González-Roca Eva, Ruiz-Ortiz Estibaliz, Ariffin Roziana, Yagüe Jordi, Aróstegui Juan I

Abstract excerpt

OBJECTIVE: Blau syndrome is characterized by noncaseating granulomatous arthritis, dermatitis, and uveitis, and results from gain-of-function NOD2 mutations. This study was undertaken to identify the genetic cause of the disease in a family with 3 members with Blau syndrome. METHODS: We studied a family with 3 affected members across 2 consecutive generations. The children's symptoms started early (at 6 and 7...

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Source

Identifiers

PMID: 26606664
DOI: 10.1002/art.39519

Genes

NOD2

Variants

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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