(Q38211947)

31 August 2017

title

Monogenic autoinflammatory diseases (English)

1 reference

31 August 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24831056%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Paul A Brogan

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24831056%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

publication date

15 May 2014

1 reference

31 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24831056%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24831056%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24831056%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

1927-1939

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24831056%20AND%20SRC:MED&resulttype=core&format=json

Autoinflammatory disease reloaded: a clinical perspective

3 June 2020

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A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia

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21 January 2018

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The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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CARD15 mutations in Blau syndrome

21 January 2018

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Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

21 January 2018

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21 January 2018

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Autoinflammatory bone disorders

21 January 2018

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Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings

21 January 2018

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

21 January 2018

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A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

21 January 2018

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

21 January 2018

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PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

21 January 2018

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

21 January 2018

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Gene hunting in autoinflammation

21 January 2018

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The expanding spectrum of rare monogenic autoinflammatory diseases

21 January 2018

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PSORS2 is due to mutations in CARD14.

21 January 2018

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Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

21 January 2018

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A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

21 January 2018

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Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

21 January 2018

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Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.

21 January 2018

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Clinical and diagnostic characteristics of hyperprolactinemia in childhood and adolescence

21 January 2018

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Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

21 January 2018

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The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta

21 January 2018

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NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder

21 January 2018

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Inflammasome adaptors and sensors: intracellular regulators of infection and inflammation

21 January 2018

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

21 January 2018

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The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency.

21 January 2018

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The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity

21 January 2018

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Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types

21 January 2018

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Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications

21 January 2018

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Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)

21 January 2018

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

21 January 2018

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Evidence for the involvement of mTOR inhibition and basal autophagy in familial Mediterranean fever phenotype

21 January 2018

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Defects in mitochondrial clearance predispose human monocytes to interleukin-1β hypersecretion.

21 January 2018

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A new set of criteria for the diagnosis of familial Mediterranean fever in childhood

21 January 2018

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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

21 January 2018

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A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients

21 January 2018

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A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

21 January 2018

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Differentiating PFAPA syndrome from monogenic periodic fevers

21 January 2018

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Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes

21 January 2018

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Guidelines for the genetic diagnosis of hereditary recurrent fevers.

21 January 2018

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Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature

21 January 2018

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Autoinflammatory gene mutations in Behçet's disease

21 January 2018

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The familial Mediterranean fever gene as a modifier of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome

21 January 2018

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Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever

21 January 2018

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21 January 2018

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21 January 2018

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Translational research network and patient registry for auto-inflammatory diseases

21 January 2018

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Prophylactic colchicine therapy in familial Mediterranean fever. A controlled, double-blind study

21 January 2018

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A controlled trial of colchicine in preventing attacks of familial mediterranean fever

21 January 2018

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Colchicine therapy for familial mediterranean fever. A double-blind trial

21 January 2018

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

21 January 2018

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

21 January 2018

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Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome

21 January 2018

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Interleukin-1-receptor antagonist in the Muckle-Wells syndrome.

21 January 2018

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Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist

21 January 2018

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Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra

21 January 2018

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Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition

21 January 2018

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Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations

21 January 2018

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Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome

21 January 2018

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Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome.

21 January 2018

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Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes

21 January 2018

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The human anti-IL-1 beta monoclonal antibody ACZ885 is effective in joint inflammation models in mice and in a proof-of-concept study in patients with rheumatoid arthritis

21 January 2018

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Use of canakinumab in the cryopyrin-associated periodic syndrome

21 January 2018

1 reference

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Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS)

21 January 2018

1 reference

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Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: results of a double-blind placebo-controlled randomized withdrawal study

21 January 2018

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NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment

21 January 2018

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The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.

21 January 2018

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Efficacy and safety of canakinumab therapy in paediatric patients with cryopyrin-associated periodic syndrome: a single-centre, real-world experience.

21 January 2018

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A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome

21 January 2018

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Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies

21 January 2018

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

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On-demand anakinra treatment is effective in mevalonate kinase deficiency

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Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency

21 January 2018

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Anti-interleukin 1 treatment for patients with familial Mediterranean fever resistant to colchicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

Serum sickness associated with rituximab in a patient with hepatitis C virus-related mixed cryoglobulinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): c

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

Systemic cytokine levels and the effects of etanercept in TNF receptor-associated periodic syndrome (TRAPS) involving a C33Y mutation in TNFRSF1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

Effects of anti-tumor necrosis factor agents for familial mediterranean fever patients with chronic arthritis and/or sacroiliitis who were resistant to colchicine treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

The efficacy of interferon alpha on colchicine-resistant familial Mediterranean fever attacks: a pilot study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

Favourable and sustained response to anakinra in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with or without AA amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEU170

10.1093/RHEUMATOLOGY/KEU170

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24831056%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference