|
Familial Mediterranean Fever
|
0.200 |
Biomarker
|
disease |
BEFREE |
A final diagnosis of SAIDs was reached in 50 patients, including 13 familial Mediterranean fever (FMF), 10 NLRP12-associated autoinflammtory disease (NLRP12-AID), 7 NLRP3-associated autoinflammatory disease (NLRP3-AID), 5 tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), 3 Blau syndrome, 3 Yao syndrome (YAOS) and 9 periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA).
|
31155445 |
2019 |
|
Familial Mediterranean Fever
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We included 42 patients with Schnitzler syndrome, 12 with adult-onset Still's disease, 7 with cryopyrin-associated periodic disease, 9 with Waldenström disease, and 10 with chronic spontaneous urticaria.
|
27564982 |
2017 |
|
Familial Mediterranean Fever
|
0.200 |
Biomarker
|
disease |
BEFREE |
These included 12 (37.5%) familial Mediterranean fever, 6 (18.8%) tumour necrosis factor-receptor associated periodic syndrome, 8 (25%) cryopirin-associated periodic syndromes (Muckle-Wells syndrome [MWS] or overlap familial cold-associated periodic syndrome/MWS), 1 (3.1%) mevalonate kinase deficiency, and 5 (15.6%) PFAPA.
|
26299986 |
2016 |
|
Familial Mediterranean Fever
|
0.200 |
Biomarker
|
disease |
BEFREE |
Of the 266 patients, 79 (29.7%) were diagnostic of SAIDs, including 54 cases of NAID, 13 familial Mediterranean fever (FMF), 6 tumor necrosis factor receptor-associated periodic syndrome (TRAPS), 5 cryopyrin-associated periodic disease (CAPS), and 1 hyper IgD periodic syndrome (HIDS).
|
26620106 |
2016 |
|
Familial Mediterranean Fever
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Familial mediterranean fever (FMF) and Cryopyrin associated periodic syndromes (CAPS) are two prototypical hereditary autoinflammatory diseases, characterized by recurrent episodes of fever and inflammation as a result of mutations in MEFV and NLRP3 genes encoding Pyrin and Cryopyrin proteins, respectively.
|
26161132 |
2015 |
|
Familial Mediterranean Fever
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
FMF WBCs exhibited lower NLRP3 and active caspase-1 protein expression compared to healthy individuals, and LPS/ATP treatment resulted in significantly lower intracellular IL-1β levels in FMF patients.
|
26074413 |
2015 |
|
Familial Mediterranean Fever
|
0.200 |
Biomarker
|
disease |
BEFREE |
Finally, in contrast with that found in the animal model, the increased secretion of IL-1β by LPS-stimulated FMF monocytes is NLRP3-dependent.
|
23505242 |
2014 |
|
Familial Mediterranean Fever
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this review we will discuss the role of IL-1β and the inflammasomes in host defence and how mutations of two genes, NLRP3 and PYRIN, leads to the autoinflammatory syndromes, cryopyrin-associated periodic syndromes (CAPS) and familial Mediterranean fever (FMF).
|
22288581 |
2012 |
|
Familial Mediterranean Fever
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The HPFs include familial Mediterranean fever (FMF), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), TNF receptor-associated syndrome (TRAPS), and cryopyrinopathies, which are attributable to mutations of the MEFV, MVK, TNFRSF1A, and CIAS1 genes, respectively.
|
19877056 |
2009 |
|
Familial Mediterranean Fever
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cryopyrin and pyrin (protein mutated in familial Mediterranean fever) belong to the family of PYRIN domain-containing proteins.
|
18347298 |
2008 |
|
Familial Mediterranean Fever
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
CIAS1 expression in PBLs from patients with FMF was also found to be lower than that in the control patients.
|
17195238 |
2007 |
|
Familial Mediterranean Fever
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
They include familial Mediterranean fever (FMF); tumor necrosis factor (TNF) receptor periodic syndrome (TRAPS); hyperimmunoglobulinemia D syndrome (HIDS); and hereditary periodic fevers related to mutations in the CIAS1 (cold induced autoinflammatory syndrome 1) gene, such as Muckle-Wells syndrome, familial cold urticaria, and CINCA/NOMID (chronic infantile neurological cutaneous and articular/neonatal-onset multisystemic inflammatory disease).
|
17950649 |
2007 |
|
Familial Mediterranean Fever
|
0.200 |
Biomarker
|
disease |
BEFREE |
To gain insight into the pathophysiology of an unusual autoinflammatory syndrome, in a patient of Armenian origin, that mimicked familial Mediterranean fever (FMF) but with episodes triggered by generalized exposure to cold, and to further elucidate the controversial function of the protein encoded by PYPAF1, whose mutations (exclusively missense to date) have been identified in 3 hereditary recurrent fever syndromes.
|
16447225 |
2006 |
|
Familial Mediterranean Fever
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|