Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

A Tufan, H LACHMANN - Turkish Journal of Medical …, 2020 - journals.tubitak.gov.tr
Abstract Familial Mediterranean fever (FMF)(OMIM# 249100) is the most common hereditary
autoinflammatory disease in the world. FMF is caused by gain of function mutations of MEFV …

Relapsed/refractory multiple myeloma: A review of available therapies and clinical scenarios encountered in myeloma relapse

P Bhatt, C Kloock, R Comenzo - Current Oncology, 2023 - mdpi.com
Multiple myeloma remains an incurable disease with the usual disease course requiring
induction therapy, autologous stem cell transplantation for eligible patients, and long-term …

Familial Mediterranean fever: current perspectives

HE Sönmez, ED Batu, S Özen - Journal of inflammation research, 2016 - Taylor & Francis
Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory
disease, and it is characterized by recurrent attacks of fever and polyserositis. The disease is …

Differentiating PFAPA syndrome from monogenic periodic fevers

M Gattorno, R Caorsi, A Meini, M Cattalini… - …, 2009 - publications.aap.org
OBJECTIVES: To analyze whether there were clinical differences between genetically
positive and negative patients fulfilling periodic fever, aphthous stomatitis, pharyngitis, and …

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: new phenotypes

A Soriano, R Manna - Autoimmunity reviews, 2012 - Elsevier
Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically
restricted and commonly found among individuals of Mediterranean descent, caused by …

Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children

S Ozen, E Demirkaya, G Amaryan… - Annals of the …, 2014 - ard.bmj.com
Background and aim Familial Mediterranean fever (FMF) is an autoinflammatory disease
caused by mutations of the MEFV gene. We analyse the impact of ethnic, environmental and …

Development and initial validation of international severity scoring system for familial Mediterranean fever (ISSF)

E Demirkaya, C Acikel, P Hashkes… - Annals of the …, 2016 - ard.bmj.com
Objective To develop widely accepted international severity score for children and adult
patients with familial Mediterranean fever (FMF) that can be easily applied, in research and …

Comorbidities and phenotype–genotype correlation in children with familial Mediterranean fever

NA Ayaz, A Tanatar, ŞG Karadağ, M Çakan… - Rheumatology …, 2021 - Springer
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory
disease manifesting with phenotypic heterogeneity. The phenotype–genotype correlation is …

Development of the autoinflammatory disease damage index (ADDI)

NM Ter Haar, KV Annink, SM Al-Mayouf… - Annals of the …, 2017 - ard.bmj.com
Objectives Autoinflammatory diseases cause systemic inflammation that can result in
damage to multiple organs. A validated instrument is essential to quantify damage in …