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Article

A Case of Blau Syndrome with NOD2 E383K Mutation.

Pediatric dermatology - 1 Nov 2016

Harada Jun, Nakajima Takeshi, Kanazawa Nobuo

Abstract excerpt

We report a 3.5-year-old Japanese boy who developed lichenoid papules and erythema with noncaseating epithelioid cell granulomas with a scant lymphocytic infiltrate histologically on his limbs at the age of 8 months. Genetic analysis of the patient and his parents, who had no medical past history, revealed heterozygous 1147G>A (E383K) mutation of NOD2 in the patient and in his father, so the patient was diagnosed...

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Source

Identifiers

PMID: 27339507
DOI: 10.1111/pde.12908

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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