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Article

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

Genes - 18 Jun 2024

Brichova Michaela, Klimova Aneta, Heissigerova Jarmila, Svozilkova Petra, Vaneckova Manuela, Dolezalova Pavla, Nemcova Dana, Michalickova Marcela, Jedlickova Jana, Dudakova Lubica, Liskova Petra

Abstract excerpt

The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was performed. The NOD2 mutational hot spot located in exon 4 was Sanger sequenced in all three probands. Two individuals also underwent autoinflammatory disorder gene panel...

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Source

Open in PubMed Open full text

Identifiers

PMID: 38927735
DOI: 10.3390/genes15060799
PMCID: PMC11203189

Genes

NOD2
NLRC4

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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