AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we report a novel MEFV variant p.P373L, causing dominant FMF complicated by AA amyloidosis in four generations of a British family.
|
31384939 |
2020 |
AA amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
FMF is an inherited autoinflammatory syndrome, characterized by attacks of painful periodic fever caused by diffuse serositis and risk of secondary amyloidosis due to IL-1β-mediated inflammation.
|
30476289 |
2019 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The late onset, often atypical and mild clinical manifestations and absence of AA amyloidosis in our patients might be related to low-penetrance and heterozygous MEFV variants.
|
30085313 |
2018 |
AA amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The 14% incidence of AA amyloidosis may reflect delay in diagnosis associated with extreme rarity of FMF in this population.
|
27150194 |
2017 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MEFV mutation was M694V homozygous or compound heterozygous in 52%, and simple heterozygous in 18%.Six patients had AA amyloidosis.
|
27838405 |
2017 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutational Spectrum of the MEFV Gene in AA Amyloidosis Associated With Familial Mediterranean Fever.
|
27225717 |
2016 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
AA amyloidosis was diagnosed in 17 (68 %) of 25 patients with homozygous M694V mutation, 17 (53 %) of 32 patients with heterozygous M694V allele and 4 (31 %) of 13 patients with other MEFV gene mutations.
|
25586652 |
2015 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with FMF and high penetrance MEFV gene mutations had a relative risk of 1.73 for AA amyloidosis.
|
25376380 |
2015 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I.
|
24593212 |
2014 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To investigate the association between CD14 promotor C-159T polymorphism and development of amyloidosis, one hundred and forty-six patients who had FMF and had not developed amyloidosis; 26 with FMF and secondary amyloidosis and 92 controls were genotyped at the CD14-C159T locus.
|
17187267 |
2007 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
|
14679589 |
2004 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects.
|
15071491 |
2004 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The characterization of mutations in MEFV and TNFRSF1A is important for the therapeutic behaviour of AA amyloidosis associated with inherited recurrent fever.
|
12105243 |
2002 |
AA amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The association of pyrin Q148 with AA amyloidosis and with obscure chronic inflammatory diseases suggests the variant may augment inflammation non-specifically, which might have been beneficial during evolution, but could potentially exacerbate many chronic inflammatory disorders.
|
11588211 |
2001 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The clinical features of dominantly inherited FMF were absolutely typical, including AA amyloidosis in a patient with pyrin DeltaM694.
|
10787449 |
2000 |
AA amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pyrin/marenostrin genotypes were determined, and AA amyloidosis was sought using serum amyloid P component scintigraphy.
|
10024914 |
1998 |