New players driving inflammation in monogenic autoinflammatory diseases (Q38253392)

1 September 2017

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title

New players driving inflammation in monogenic autoinflammatory diseases (English)

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1 September 2017

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1

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1 September 2017

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Ivona Aksentijevich

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1 September 2017

language of work or name

English

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publication date

23 September 2014

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Nature Reviews Rheumatology

1 September 2017

published in

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1 September 2017

volume

11

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1 September 2017

issue

1

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1 September 2017

page(s)

11-20

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Autoinflammatory disease reloaded: a clinical perspective

1 September 2017

cites work

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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.

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

31 March 2020

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A candidate gene for familial Mediterranean fever

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

31 March 2020

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TNFRSF1A mutations and autoinflammatory syndromes

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Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome

31 March 2020

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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)

31 March 2020

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

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Mutant tumor necrosis factor receptor associated with tumor necrosis factor receptor-associated periodic syndrome is altered antigenically and is retained within patients' leukocytes

31 March 2020

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Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome

31 March 2020

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Biological and chemical approaches to diseases of proteostasis deficiency

31 March 2020

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The interplay between endoplasmic reticulum stress and inflammation.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Aberrant mucin assembly in mice causes endoplasmic reticulum stress and spontaneous inflammation resembling ulcerative colitis

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

HLA-B27 misfolding and ankylosing spondylitis

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Toll-like receptor-mediated IRE1α activation as a therapeutic target for inflammatory arthritis

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

TLR activation of the transcription factor XBP1 regulates innate immune responses in macrophages.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Endoplasmic reticulum stress-induced transcription factor, CHOP, is crucial for dendritic cell IL-23 expression

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

IRE1α induces thioredoxin-interacting protein to activate the NLRP3 inflammasome and promote programmed cell death under irremediable ER stress.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

ER stress activates the NLRP3 inflammasome via an UPR-independent pathway

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Thioredoxin-interacting protein mediates ER stress-induced β cell death through initiation of the inflammasome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Inflammasome activation by altered proteostasis

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Mechanisms and functions of inflammasomes

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

IL-1 blockade in autoinflammatory syndromes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

The multicatalytic proteinase (prosome) is ubiquitous from eukaryotes to archaebacteria

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

The immunoproteasome in antigen processing and other immunological functions

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

The role of the proteasome in the generation of MHC class I ligands and immune responses

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Mice completely lacking immunoproteasomes show major changes in antigen presentation

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Proteasomes in immune cells: more than peptide producers?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Association of large molecular weight proteasome 7 gene polymorphism with ankylosing spondylitis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

A polymorphism rs17336700 in the PSMD7 gene is associated with ankylosing spondylitis in Chinese subjects.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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.2014.158

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.2014.158

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Regulation of innate immunity by signaling pathways emerging from the endoplasmic reticulum

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

ERAP1 structure, function and pathogenetic role in ankylosing spondylitis and other MHC-associated diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Disease-associated amyloid and misfolded protein aggregates activate the inflammasome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Characterization of phospholipase C gamma enzymes with gain-of-function mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2+ entry

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Early-onset stroke and vasculopathy associated with mutations in ADA2

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

A population-based study of the incidence and prognosis of lacunar stroke

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Human plasma adenosine deaminase 2 is secreted by activated monocytes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Macrophages are a source of extracellular adenosine deaminase-2 during inflammatory responses

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Tuberculous pleural effusions

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Adenosine deaminase activity in patients with Crohn's disease: distinction between active and nonactive disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Plasma adenosine deaminase activity among HIV1 Clade C seropositives: relation to CD4 T cell population and antiretroviral therapy.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Structural basis for the growth factor activity of human adenosine deaminase ADA2

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

A role for adenosine deaminase in Drosophila larval development

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

The extracellular adenosine deaminase growth factor, ADGF/CECR1, plays a role in Xenopus embryogenesis via the adenosine/P1 receptor

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Transgenic expression of CECR1 adenosine deaminase in mice results in abnormal development of heart and kidney

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Activated STING in a vascular and pulmonary syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Lighting the fires within: the cell biology of autoinflammatory diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Mevalonate kinase deficiency, a metabolic autoinflammatory disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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.2014.158

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Blau syndrome, clinical and genetic aspects

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

CARD15 mutations in Blau syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

PEST family phosphatases in immunity, autoimmunity, and autoinflammatory disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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.2014.158

Mutations in NALP12 cause hereditary periodic fever syndromes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

DIRA, DITRA, and new insights into pathways of skin inflammation: what's in a name?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

An autoinflammatory disease due to homozygous deletion of the IL1RN locus

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

IL-10 and IL-10 receptor defects in humans.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

HOIL and water: the two faces of HOIL-1 deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Purinergic signaling during inflammation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

NT5E mutations and arterial calcifications

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRRHEUM.2014.158

Tumour necrosis factor receptor 1 mediates endoplasmic reticulum stress-induced activation of the MAP kinase JNK

31 March 2020

1 reference

12 December 2020

Genetics of proteasome diseases.

1 reference

12 December 2020

Polymorphism in the MHC-encoded LMP7 gene: association with JRA without functional significance for immunoproteasome assembly.

1 reference

12 December 2020

Adenosine deaminase 2 in the diagnosis of tuberculous pleuritis

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRRHEUM.2014.158

1 reference

Dimensions Publication ID

1 September 2017

1027430177

0 references

1 reference