Autosomal dominant familial Mediterranean feverlike syndrome

Mache, Christoph J.; Goriup, U; Fischel‐Ghodsian, Nathan; Chen, X.; Schwingshandl, J.

doi:10.1007/bf02002908

Cited by 8 publications

(1 citation statement)

References 16 publications

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“…The most frequently reported symptom is abdominal pain, which can resemble an acute abdomen in presentation and on physical examination 52 . Although the disease phenotype is classically described as inherited in an autosomal-recessive fashion, there are increasing reports of patients with only one identifiable heterozygous MEFV mutation, with clear autosomal-dominant inheritance 53 , 54 . Murine studies have confirmed that MEFV mutations observed in patients are gain-of-function, consistent with inflammatory phenotypes in patients with a single identified heterozygous variant 55 .…”

Section: Aetiology Of Autoinflammatory Diseasesmentioning

confidence: 99%

IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting

Broderick

Hoffman

2022

Nat Rev Rheumatol

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Over 20 years ago, it was first proposed that autoinflammation underpins a handful of rare monogenic disorders characterized by recurrent fever and systemic inflammation. The subsequent identification of novel, causative genes directly led to a better understanding of how the innate immune system is regulated under normal conditions, as well as its dysregulation associated with pathogenic mutations. Early on, IL-1 emerged as a central mediator for these diseases, based on data derived from patient cells, mutant mouse models and definitive clinical responses to IL-1 targeted therapy. Since that time, our understanding of the mechanisms of autoinflammation has expanded beyond IL-1 to additional innate immune processes. However, the number and complexity of IL-1-mediated autoinflammatory diseases has also multiplied to include additional monogenic syndromes with expanded genotypes and phenotypes, as well as more common polygenic disorders seen frequently by the practising clinician. In order to increase physician awareness and update rheumatologists who are likely to encounter these patients, this review discusses the general pathophysiological concepts of IL-1-mediated autoinflammation, the epidemiological and clinical features of specific diseases, diagnostic challenges and approaches, and current and future perspectives for therapy.

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Section: Aetiology Of Autoinflammatory Diseasesmentioning

confidence: 99%

IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting

Broderick

Hoffman

2022

Nat Rev Rheumatol

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Genetic Analysis as a Valuable Key to Diagnosis and Treatment of Periodic Fever

Simon

Deuren²,

Tighe³

et al. 2001

Archives of Internal Medicine

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We describe 2 Dutch patients with recurrent fever attacks undiagnosed for more than 40 years. The diagnosis of periodic fever was made when molecular analysis revealed novel mutations in the tumor necrosis factor (TNF) receptor gene (TNFRSF1A), establishing the diagnosis of TNF receptor-associated periodic syndrome. This syndrome is an autosomal dominant disorder characterized by recurring episodes of fever, arthralgia, and skin lesions that is caused by mutations in the 55-kd TNFRSF1A gene. This finding has facilitated treatment for TNF receptor-associated periodic syndrome because blocking of TNF signaling seems to alleviate the symptoms. Use of a short course of recombinant p75TNFR:Fc fusion protein (etanercept) induced prolonged remission in one patient.

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Le TNF-receptor associated periodic syndrome (TRAPS) : aspects cliniques et physiopathologiques d'une maladie familiale rare

Hentgen¹,

Reinert

2003

Archives de Pédiatrie

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Autosomal dominant familial Mediterranean feverlike syndrome

Abstract: An Austrian family with recurrent fever syndrome is reported. Ethnicity, clinical features, and molecular studies point to a distinct clinical entity.

Cited by 8 publications

References 16 publications

IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting

IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting

Genetic Analysis as a Valuable Key to Diagnosis and Treatment of Periodic Fever

Le TNF-receptor associated periodic syndrome (TRAPS) : aspects cliniques et physiopathologiques d'une maladie familiale rare

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