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Article

Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation.

International journal of immunogenetics - 1 Jun 2011

Jimenez-Martinez M C, Cruz F, Groman-Lupa S, Zenteno J C

Abstract excerpt

The genetic and immunophenotypic characteristics of a 3-year-old patient with Blau syndrome (BS), an early onset sarcoidosis caused by mutations in NOD2, were investigated. Molecular analysis of NOD2 gene was achieved by PCR and direct nucleotide sequencing. Immunophenotyping included cytometric analysis of memory-effector markers on T-cells, and cytokine in serum, aqueous humour and vitreous. A novel M513R...

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Source

Identifiers

PMID: 21320290
DOI: 10.1111/j.1744-313X.2011.00998.x

Genes

NOD2
CCR9
CCR4
CCR7

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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