Familial Mediterranean fever

Padeh, Shai; Berkun, Yackov

doi:10.1097/bor.0000000000000315

Cited by 61 publications

(53 citation statements)

References 54 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Familial Mediterranean fever (FMF) is an autosomal recessive disease affecting people of Mediterranean descent and characterized by Mediterranean fever ( MEFV ) gene mutations, intermittent attacks of fever with peritonitis, abdominal pain, pleuritis, arthritis, and erysipelas‐like rashes . The MEFV is located on chromosome 16p13.3 and is composed of 10 exons encoding a protein called pyrin or marenostrin .…”

Section: Introductionmentioning

confidence: 99%

Serum, salivary, and tissue levels of plasminogen in familial Mediterranean fever, amyloidosis, and chronic periodontitis

Fentoğlu

Dinç

Doğru³

et al. 2018

Journal of Periodontology

View full text Add to dashboard Cite

show abstract

Section: Introductionmentioning

confidence: 99%

Serum, salivary, and tissue levels of plasminogen in familial Mediterranean fever, amyloidosis, and chronic periodontitis

Fentoğlu

Dinç

Doğru³

et al. 2018

Journal of Periodontology

View full text Add to dashboard Cite

show abstract

“…It commonly affects populations of Mediterranean origin like Arabs, Armenians, non-Ashkenazi Jews, Turks, Greeks and Cypriots. FMF is a monogenic disease inherited as an autosomal-recessive trait 3. The underlying genetic abnormality is mutations in the MEFV gene, which is coding the protein pyrin.…”

Section: Introductionmentioning

confidence: 99%

A delayed diagnosis: recurrent fever and beta thalassaemia

Samarkos¹,

Mantzourani

Nika

et al. 2018

BMJ Case Reports

View full text Add to dashboard Cite

Familial Mediterranean fever and beta-thalassaemia are two genetic disorders, with a largely common geographical distribution. However, they have not much else in common, as the first is an autoinflammatory disorder, while the other is a haemoglobinopathy. We describe a patient with known beta-thalassaemia intermedia who presented with recurrent fevers and he was diagnosed with familial Mediterranean fever 2 years later. We discuss whether there is an association between the two disorders and the cognitive biases that lead to the delay in the diagnosis of familial Mediterranean fever.

show abstract

“…The pathogenesis of familial Mediterranean fever (FMF) has been a topic of great interest since the discovery of causal gene MEFV , encoding pyrin protein, almost 20 years ago [30]. FMF generally, but not exclusively, affects people of Mediterranean descent and common clinical manifestations include recurrent short-lasting episodes of fever accompanied by painful inflammation of serosal tissues.…”

Section: Introductionmentioning

confidence: 99%

Lessons from characterization and treatment of the autoinflammatory syndromes

Aksentijevich

McDermott

2017

Current Opinion in Rheumatology

View full text Add to dashboard Cite

Purpose of review The list of genes associated with systemic inflammatory diseases has been steadily growing due to the explosion of new genomic technologies. Significant advances in the past year have deepened our understanding of the molecular mechanisms linked to inflammation and elucidated insights on the efficacy of specific therapies for these and related conditions. We review the molecular pathogenesis of four recently characterized monogenic autoinflammatory diseases: Haploinsufficiency of A20 (HA20), otulipenia, a severe form of pyrin-associated disease, and a monogenic form of systemic juvenile idiopathic arthritis (sJIA). Recent findings The scope of autoinflammation has been broadened to include defects in deubiquitination and cellular redox homeostasis. At the clinical level we discuss the biological rationale for treatment with cytokine inhibitors and colchicine in respective conditions and the use of IL-1 antagonism for diagnostic and therapeutic purposes in the management of undifferentiated autoinflammatory disorders. Summary Gene discoveries coupled with studies of molecular function provide knowledge into the biology of inflammatory responses and form the basis for genomically-informed therapies. Diseases of dysregulated ubiquitination constitute a novel category of human inflammatory disorders.

show abstract

Familial Mediterranean fever

Abstract: New diagnostic criteria, disease severity score, treatment and follow-up guidelines have been proposed, and need validation in the next several years.

Cited by 61 publications

References 54 publications

Serum, salivary, and tissue levels of plasminogen in familial Mediterranean fever, amyloidosis, and chronic periodontitis

Serum, salivary, and tissue levels of plasminogen in familial Mediterranean fever, amyloidosis, and chronic periodontitis

A delayed diagnosis: recurrent fever and beta thalassaemia

Lessons from characterization and treatment of the autoinflammatory syndromes

Contact Info

Product

Resources

About