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Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India - Case series and review of literature.

Clinical immunology (Orlando, Fla.) - 1 Oct 2023

Baisya Ritasman, Manthri Ramesh, Tyagi Mudit, Uppin Shantveer G, Rajasekhar Liza

Abstract excerpt

OBJECTIVE: Blau syndrome (BS), considered a rare pediatric autoinflammatory disease, is characterised by a triad of granulomatous arthritis, dermatitis and uveitis. Here we present a tale of three families visited in our outpatient department in the last two years (2020-2022) where more than one member was affected with either skin, ophthalmological and joint involvement with either biopsy-proven granuloma or...

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Identifiers

PMID: 37604356
DOI: 10.1016/j.clim.2023.109743

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