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Article

First report of liver transplantation in Blau syndrome: The challenges faced in this rare granulomatous liver disease.

Transplant immunology - 1 Apr 2021

Sinharay Ricky, McKeown Lorcán, Phillips Catriona, Li Alice, Duckworth Adam, Hall Frances, Griffiths William J H

Abstract excerpt

Blau syndrome is a rare autoinflammatory granulomatous disease caused by variants in the NOD2 gene, classically presenting in childhood. Hepatic manifestations are recognized including cholestasis and granulomatous liver disease. We describe a novel NOD2 gene variant c.1471A > C, p.(Met491Leu) in an adult who developed cirrhotic complications despite selective immunotherapy, including recurrent esophageal...

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Identifiers

PMID: 33621644
DOI: 10.1016/j.trim.2021.101378

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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