A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin (Q38163822)

30 August 2017

A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin (English)

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familial Mediterranean fever

30 August 2017

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Seza Ozen

1

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30 August 2017

Yelda Bilginer

series ordinal

2

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30 August 2017

language of work or name

English

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publication date

19 November 2013

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Nature Reviews Rheumatology

30 August 2017

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30 August 2017

10

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30 August 2017

3

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30 August 2017

135-147

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https://scigraph.springernature.com/pub.10.1038/nrrheum.2013.174

30 August 2017

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Pyrin levels in human monocytes and monocyte-derived macrophages regulate IL-1beta processing and release

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The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing

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Screening for Familial Mediterranean Fever M694V and V726A Mutations in the Greek Population

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Familial Mediterranean fever in Japan

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MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children

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Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148.

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Validation of the new paediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders

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Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis

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Pyrin Q148 mutation and familial Mediterranean fever

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E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever

31 March 2020

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Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura

31 March 2020

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Genetics of monogenic autoinflammatory diseases: past successes, future challenges

31 March 2020

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Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation?

31 March 2020

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Clinical disease among patients heterozygous for familial Mediterranean fever

31 March 2020

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Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness

31 March 2020

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Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever

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Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement

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Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever

31 March 2020

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31 March 2020

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Interleukin-1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature

31 March 2020

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Canakinumab induces remission in a patient with resistant familial Mediterranean fever

31 March 2020

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The Eurofever Project: towards better care for autoinflammatory diseases

31 March 2020

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Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

31 March 2020

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Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes

31 March 2020

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De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

31 March 2020

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Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients

31 March 2020

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31 March 2020

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The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies

31 March 2020

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Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes

31 March 2020

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Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

31 March 2020

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Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

31 March 2020

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Infevers: an evolving mutation database for auto-inflammatory syndromes

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to eta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS).

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Involvement of X-box binding protein 1 and reactive oxygen species pathways in the pathogenesis of tumour necrosis factor receptor-associated periodic syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): state of the art and future perspectives

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS).

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Hyperimmunoglobulinaemia D and periodic fever: a new syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Mevalonate kinase deficiency, a metabolic autoinflammatory disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

A role for geranylgeranylation in interleukin-1beta secretion

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Mevalonate kinase deficiency: a survey of 50 patients.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Hyper-IgD syndrome or mevalonate kinase deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Mutations in NALP12 cause hereditary periodic fever syndromes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Autoinflammatory diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Efficacy of anti-IL-1 treatment in Majeed syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Blau syndrome, clinical and genetic aspects

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Pediatric granulomatous arthritis: an international registry

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

How to diagnose a lipodystrophy syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

Periodic fever, apthous stomatitis, pharyngitis and adenitis syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2013.174

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

31 March 2020

1 reference

12 December 2020

Familial Hibernian fever

1 reference

12 December 2020

Mutations/polymorphisms in a monogenetic autoinflammatory disease may be susceptibility markers for certain rheumatic diseases: lessons from the bedside for the benchside.

1 reference

12 December 2020

Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study.

1 reference

12 December 2020

Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation?

1 reference

12 December 2020

Therapeutic approach to familial Mediterranean fever: a review update.

1 reference

12 December 2020

Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome

1 reference

12 December 2020

The autoinflammatory diseases

1 reference

12 December 2020

About colchicine compliance, resistance and virulence

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRRHEUM.2013.174

1 reference

Dimensions Publication ID

30 August 2017

0 references

1 reference