|
Arthritis
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
PGA is characterized by a triad of autoinflammatory problems (dermatitis, uveitis, and arthritis) in early childhood, which suggests the causal NOD2/CARD15 mutations are activating defects.
|
29933504 |
2018 |
|
Arthritis
|
0.190 |
AlteredExpression
|
disease |
BEFREE |
Instead, Nod2 deficiency resulted in an enhanced fundamental ability of SKG CD4<sup>+</sup> T cells (from naive mice) to produce increased levels of IL-17 and to passively transfer arthritis to lymphopenic recipients on a single-cell level.
|
30150283 |
2018 |
|
Arthritis
|
0.190 |
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 |
|
Arthritis
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Elucidation of downstream effects of NOD2 mutations could provide valuable clues to mechanisms of arthritis and uveitis in general as well as granulomatous diseases in particular.
|
21788900 |
2011 |
|
Arthritis
|
0.190 |
Biomarker
|
disease |
BEFREE |
These data indicate that the NLR family members Nod1 and Nod2 have different functions in controlling inflammation, and that intracellular Nod1-Nod2 interactions may determine the severity of arthritis in this experimental model.
|
18574154 |
2008 |
|
Arthritis
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicate that the NOD2 mutation associated with this syndrome alters host:microbial interaction, and this may have relevance to triggering factors in the ocular and joint inflammation seen in BS.
|
17096091 |
2007 |
|
Arthritis
|
0.190 |
GeneticVariation
|
disease |
LHGDN |
Blau syndrome and its sporadic counterpart, early-onset sarcoidosis, share an identical phenotype featuring the classic triad of arthritis, dermatitis, and uveitis and are associated with mutations of CARD15 in 50-90% of cases.
|
17009307 |
2006 |
|
Arthritis
|
0.190 |
Biomarker
|
disease |
BEFREE |
The caspase recruitment domain gene CARD15/NOD2, encoding a cellular receptor involved in an NF-kappaB-mediated pathway of innate immunity, was first identified as a major susceptibility gene for Crohn's disease (CD), and more recently, as responsible for Blau syndrome (BS), a rare autosomal-dominant trait characterized by arthritis, uveitis, skin rash and granulomatous inflammation.
|
15812565 |
2005 |
|
Arthritis
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis.
|
15693102 |
2005 |
|
Arthritis
|
0.190 |
Biomarker
|
disease |
HPO |
|
|
|