Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.

Pediatric rheumatology online journal - 3 Oct 2022

Chang Shao-Yu, Kambe Naotomo, Fan Wen-Lang, Huang Jing-Long, Lee Wen-I, Wu Chao-Yi

Abstract excerpt

BACKGROUND: Blau syndrome (BS) is a rare autoinflammatory disorder with NOD2 gain-of-function mutation and characterized by autoactivation of the NFκB pathway. Classically considered a disease of high penetrance, reports on NOD2 mutations underlining BS with incomplete penetrance is limited. CASE PRESENTATION: The proband is a 9-year-old girl presented with brownish annular infiltrative plaques and symmetric...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthritis
Share to Child
Share to HEK293 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nod2 Signaling Adaptor Protein

Share to Penetrance

Share to Sarcoidosis

Share to Synovitis

Share to Uveitis

Source

Open in PubMed Open full text

Identifiers

PMID: 36192768
DOI: 10.1186/s12969-022-00743-1
PMCID: PMC9531522

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.PMID 36192768Read ↗

A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.Semantic proximity Read ↗

Blau syndrome, the prototypic auto-inflammatory granulomatous disease.Semantic proximity Read ↗

A Case of Blau Syndrome with NOD2 E383K Mutation.Semantic proximity Read ↗

Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India - Case series and review of literature.Semantic proximity Read ↗

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

Blau syndrome with NOD2 mutation in a 54-year-old man: A case report.Semantic proximity Read ↗

Novel mutation in NOD2 gene with report on three families with Blau syndrome (BS) from a single centre in India - case series and review of literatureSemantic proximity Read ↗

Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosis.Semantic proximity Read ↗

Blau syndrome revisited.Semantic proximity Read ↗

NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.Semantic proximity Read ↗

A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome.Semantic proximity Read ↗

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.