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Article

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report.

Pediatric rheumatology online journal - 27 Jul 2017

Dziedzic Magdalena, Marjańska Agata, Bąbol-Pokora Katarzyna, Urbańczyk Anna, Grześk Elżbieta, Młynarski Wojciech, Kołtan Sylwia

Abstract excerpt

BACKGROUND: Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this gene is Nod2 protein, taking part in maintenance of immune homeostasis. Clinical form of resultant autoinflammatory condition depends on NOD2 genotype; usually patients with NOD2 defects present...

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Identifiers

PMID: 28750667
DOI: 10.1186/s12969-017-0188-7
PMCID: PMC5531019

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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