Autoinflammatory syndromes with a dermatological perspective (Q36922302)

17 August 2017

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title

Autoinflammatory syndromes with a dermatological perspective (English)

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17 August 2017

Nobuo Kanazawa

1

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PubMed ID

17727363

17 August 2017

Fukumi Furukawa

series ordinal

2

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17 August 2017

1 September 2007

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The Journal of Dermatology

17 August 2017

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17 August 2017

34

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17 August 2017

9

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17 August 2017

601-618

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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.

17 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

TNFRSF1A mutations and autoinflammatory syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Hereditary periodic fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Erysipelas-like erythema of familial Mediterranean fever: clinicopathologic correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

A candidate gene for familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Allogeneic bone marrow transplantation: cure for familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Hyperimmunoglobulinaemia D and periodic fever: a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Immunological studies in the hyper-immunoglobulin D syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Association of hyperimmunoglobulinaemia D syndrome with erythema elevatum diutinum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Regulation of the mevalonate pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Critical role for NALP3/CIAS1/Cryopyrin in innate and adaptive immunity through its regulation of caspase-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

PSTPIP is a substrate of PTP-PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

A common pathway in periodic fever syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Lichenoid eruptions in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

CARD15 mutations in Blau syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

The PCH family member MAYP/PSTPIP2 directly regulates F-actin bundling and enhances filopodia formation and motility in macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Behçet's disease: from Hippocrates to the third millennium

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Behçet's disease, the Silk Road and HLA-B51: historical and geographical perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

MEFV mutations in Behçet's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Crohn's disease, mycobacteria, and NOD2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

NOD2 mutation and mice: no Crohn's disease but many lessons to learn.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

NOD2 and Crohn's disease: loss or gain of function?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

CARD 15 gene mutations in sarcoidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

CARD15 single nucleotide polymorphisms 8, 12 and 13 are not increased in ethnic Danes with sarcoidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Lack of common NOD2 variants in Japanese patients with Crohn's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Sarcoidosis and NOD1 variation with impaired recognition of intracellular Propionibacterium acnes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene polymorphisms in Turkish patients with inflammatory bowel disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

NOD2: ethnic and geographic differences

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Association of CARD15 polymorphisms with atopy-related traits in a population-based cohort of Caucasian adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

NOD1 variation, immunoglobulin E and asthma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Association of NOD1 polymorphisms with atopic eczema and related phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Functional and prognostic relevance of the -173 polymorphism of the macrophage migration inhibitory factor gene in systemic-onset juvenile idiopathic arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Schnitzler's syndrome with IgG kappa gammopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Beneficial response to anakinra and thalidomide in Schnitzler's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

CATERPILLERs, pyrin and hereditary immunological disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

NOD-LRR proteins: role in host-microbial interactions and inflammatory disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

NLRs join TLRs as innate sensors of pathogens

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

NALP1 in vitiligo-associated multiple autoimmune disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

CARD15/NOD2 single nucleotide polymorphisms do not confer susceptibility to type I psoriasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Association between polymorphisms in caspase recruitment domain containing protein 15 and allergy in two German populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Contribution of the NOD1/CARD4 insertion/deletion polymorphism +32656 to inflammatory bowel disease in Northern Europe#

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

CARD15 mutations in patients with plaque-type psoriasis and psoriatic arthritis: lack of association

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2007.00342.X

10.1111/J.1346-8138.2007.00342.X

21 January 2018

Identifiers

DOI

1 reference

17 August 2017

1 reference

PubMed ID

17727363