Amyloidosis in autoinflammatory syndromes

L Obici, G Merlini - Autoimmunity Reviews, 2012 - Elsevier
AA amyloidosis may still dramatically impact on the outcome of patients with
autoinflammatory diseases, particularly when diagnosis is delayed. Clinicians should …

Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients

T Akpolat, O Özkaya, S Özen - Gene, 2012 - Elsevier
Secondary amyloidosis is the most severe complication of familial Mediterranean fever
(FMF). Since the M694V mutation was associated with clinical severity, it was expected to be …

An international registry on autoinflammatory diseases: the Eurofever experience

N Toplak, J Frenkel, S Ozen, HJ Lachmann… - Annals of the …, 2012 - ard.bmj.com
Objective To report on the demographic data from the first 18 months of enrollment to an
international registry on autoinflammatory diseases in the context of the Eurofever project …

The Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to excessive interleukin-1β and IL-18 production

D Verma, E Särndahl, H Andersson, P Eriksson… - PloS one, 2012 - journals.plos.org
Background The Q705K polymorphism in NLRP3 has been implicated in several chronic
inflammatory diseases. In this study we determine the functional role of this commonly …

Familial Mediterranean fever in Japan

K Migita, R Uehara, Y Nakamura, M Yasunami… - Medicine, 2012 - journals.lww.com
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is
prevalent in Mediterranean populations. While it is considered a rare disease in the rest of …

The autoinflammatory diseases

S Federici, R Caorsi, M Gattorno - Swiss medical weekly, 2012 - smw.ch
The autoinflammatory diseases | Swiss Medical Weekly Skip to main navigation menu Skip to
main content Skip to site footer Admin menu Register Login Submissions ##common.pageHeaderLogo.altText## …

Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

S Federici, G Calcagno, M Finetti, R Gallizzi… - Annals of the …, 2012 - ard.bmj.com
Objective To evaluate the actual impact of MEFV mutations on clinical manifestations
associated with fever attacks in Caucasian children with periodic fever. Methods 113 …

The fresco of autoinflammatory diseases from the pediatric perspective

D Rigante - Autoimmunity Reviews, 2012 - Elsevier
Autoinflammatory diseases are genetic or acquired clinical entities globally caused by the
aberrant release of the proinflammatory cytokine interleukin-1 and mostly characterized by …

Biologic drugs in autoinflammatory syndromes

R Caorsi, S Federici, M Gattorno - Autoimmunity reviews, 2012 - Elsevier
PURPOSE OF THE REVIEW: Inherited autoinflammatory syndromes are conditions caused
by mutations of proteins playing a pivotal role in the regulation of the innate immunity …

The relative contribution of environmental and genetic factors to phenotypic variation in familial Mediterranean fever (FMF)

I Ben-Zvi, B Brandt, Y Berkun, M Lidar, A Livneh - Gene, 2012 - Elsevier
INTRODUCTION: Familial Mediterranean fever (FMF) is an autosomal recessive disease,
caused by mutations in the FMF gene MEFV (MEditerranean FeVer). It has a large …