|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The R334W mutation in NOD2/CARD15 caused Blau syndrome in a Chinese pedigree.
|
22509093 |
2012 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Granulomatous disease associated with NOD2 variants may be an intermediate form between Blau syndrome and NAID.
|
26164256 |
2015 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.
|
19359344 |
2009 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study was undertaken to describe the expanded clinical phenotype, treatment outcomes, and NOD2 gene mutation analysis in a Spanish cohort with pediatric granulomatous arthritis, a chronic disease resembling Blau syndrome/early-onset sarcoidosis.
|
17968944 |
2007 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Blau's syndrome (familial juvenile systemic granulomatosis) presents with non-caseating granulomatous inflammation affecting the joint, skin, and uveal tract (the triad of arthritis, dermatitis and uveitis) and is associated with mutations of the NACHT domain of the gene CARD15 (or NOD2).
|
22714396 |
2012 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Twenty Japanese patients with Blau syndrome/EOS and NOD2 mutations were recruited.
|
19116920 |
2009 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.
|
31760574 |
2020 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Twenty Japanese patients with Blau syndrome/EOS and NOD2 mutations were recruited.
|
19116920 |
2009 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations and polymorphisms in the NOD2/CARD15 gene reduce antibacterial responses and are associated with granulomatous inflammatory conditions such as Blau syndrome and early-onset sarcoidosis.
|
18616576 |
2008 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All of his three children had Blau syndrome and had inherited the NOD2 mutation.
|
19169908 |
2009 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain.
|
19479837 |
2009 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding NOD2 in humans have been associated with Crohn's disease (CD), Blau syndrome (BS), and early onset sarcoidosis (EOS).
|
19467619 |
2010 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Early-onset sarcoidosis (EOS), which occurs in children younger than 5 years of age, is associated with granulomatous lesions and a sporadic genetic mutation of the nucleotide-binding oligomerization domain 2 that causes constitutive NF-kappaB activation.
|
20039400 |
2010 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.
|
17372104 |
2007 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, recent evidence has demonstrated that mutations in Nod1 and Nod2 are associated with a number of human inflammatory disorders, including Crohn's disease, Blau syndrome, early-onset sarcoidosis, and atopic diseases.
|
17690884 |
2007 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The association of NOD2 mutations with a number of inflammatory pathologies, including Crohn disease (CD), Graft-versus-host disease (GVHD), and Blau syndrome, highlights its pivotal role in host-pathogen interactions and inflammatory response.
|
28253332 |
2017 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In children, discrimination between early onset sarcoidosis and Blau syndrome should include a CARD15 mutation analysis.
|
17207093 |
2006 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Blau syndrome (BS) is a rare dominantly inherited autoinflammatory disorder associated with mutations in the nucleotide-binding oligomerization domain containing 2 (NOD2) gene.
|
31718710 |
2019 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To identify pathogenic gene variants in the NOD2 gene and assess the clinical features of a cohort of Chinese patients affected with Blau syndrome.
|
30806112 |
2020 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first description of gonosomal NOD2 mosaicism as the cause of intrafamilial recurrence of Blau syndrome.
|
26606664 |
2016 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed.
|
28639104 |
2017 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 4-year-old boy was diagnosed as having Blau syndrome on the basis of typical clinical features, histologic evidence of noncaseating granulomas, and a NOD2 mutation.
|
23124805 |
2013 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Blau Syndrome Associated with Nucleotide-binding Oligomerization Domain Containing 2 Mutation in a Baby from Malaysia.
|
31543536 |
2020 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of the NOD2 gene revealed a missense mutation (R334W) previously detected in other Blau syndrome pedigrees.
|
20199415 |
2010 |
|
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NOD2 are responsible for Blau syndrome, a systemic disease triad involving the uvea, joints, and skin.
|
14597055 |
2003 |