(Q39443996)

12 September 2017

The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation (English)

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Corrigendum: The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.

12 September 2017

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corrigendum / erratum

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3

Ivona Aksentijevich

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12 September 2017

4

Daniel L Kastner

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12 September 2017

1

Kalpana Manthiram

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12 September 2017

Qing Zhou

2

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PubMed ID

28722725

12 September 2017

language of work or name

English

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publication date

1 July 2017

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12 September 2017

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12 September 2017

18

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12 September 2017

8

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12 September 2017

832-842

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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.

12 September 2017

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21 January 2018

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Innate immunity: the virtues of a nonclonal system of recognition

21 January 2018

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Mechanisms and functions of inflammasomes

21 January 2018

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Inflammasome-activated gasdermin D causes pyroptosis by forming membrane pores

21 January 2018

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Pore-forming activity and structural autoinhibition of the gasdermin family

21 January 2018

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Caspase-11 cleaves gasdermin D for non-canonical inflammasome signalling.

21 January 2018

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Cleavage of GSDMD by inflammatory caspases determines pyroptotic cell death

21 January 2018

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Pyroptosis: Gasdermin-Mediated Programmed Necrotic Cell Death

21 January 2018

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

21 January 2018

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A candidate gene for familial Mediterranean fever

21 January 2018

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Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

21 January 2018

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Clinical disease among patients heterozygous for familial Mediterranean fever

21 January 2018

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Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations

21 January 2018

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Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice

21 January 2018

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

21 January 2018

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

21 January 2018

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Innate immune sensing of bacterial modifications of Rho GTPases by the Pyrin inflammasome

21 January 2018

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Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS

21 January 2018

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Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.

21 January 2018

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Site-specific phosphorylation and microtubule dynamics control Pyrin inflammasome activation

21 January 2018

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Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

21 January 2018

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Recognition of pathogens by plants

21 January 2018

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Immunology taught by bacteria

21 January 2018

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The Yersinia pestis Effector YopM Inhibits Pyrin Inflammasome Activation.

21 January 2018

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The Yersinia Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III Effector-Triggered Activation of the Pyrin Inflammasome

21 January 2018

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A Burkholderia Type VI Effector Deamidates Rho GTPases to Activate the Pyrin Inflammasome and Trigger Inflammation.

21 January 2018

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Homeostasis-altering molecular processes as mechanisms of inflammasome activation

21 January 2018

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

21 January 2018

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

21 January 2018

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Control of the innate immune response by the mevalonate pathway.

21 January 2018

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Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

21 January 2018

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Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis

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

21 January 2018

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Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

21 January 2018

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

21 January 2018

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High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study

21 January 2018

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Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation

21 January 2018

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Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism

21 January 2018

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

21 January 2018

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Sensing and reacting to microbes through the inflammasomes

21 January 2018

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Silica crystals and aluminum salts activate the NALP3 inflammasome through phagosomal destabilization

21 January 2018

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Gout-associated uric acid crystals activate the NALP3 inflammasome

21 January 2018

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Innate immune activation through Nalp3 inflammasome sensing of asbestos and silica

21 January 2018

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Differential requirement of P2X7 receptor and intracellular K+ for caspase-1 activation induced by intracellular and extracellular bacteria.

21 January 2018

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NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals

21 January 2018

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Mechanisms of disease: inflammasome activation and the development of type 2 diabetes

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

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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The CATERPILLER protein monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor alpha-, and Mycobacterium tuberculosis-induced pro-inflammatory signals

21 January 2018

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Monarch-1 suppresses non-canonical NF-kappaB activation and p52-dependent chemokine expression in monocytes.

21 January 2018

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NLRP12 suppresses colon inflammation and tumorigenesis through the negative regulation of noncanonical NF-κB signaling

21 January 2018

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Mutations in NALP12 cause hereditary periodic fever syndromes

21 January 2018

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Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.

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

21 January 2018

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Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants

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 F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages

21 January 2018

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Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome

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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Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation.

21 January 2018

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A role for the NLRP3 inflammasome in metabolic diseases--did Warburg miss inflammation?

21 January 2018

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Mitochondria are the powerhouses of immunity.

21 January 2018

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

21 January 2018

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An autoinflammatory disease due to homozygous deletion of the IL1RN locus

21 January 2018

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Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

21 January 2018

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

21 January 2018

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Biology of IL-36 cytokines and their role in disease

21 January 2018

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Nod2 mutation in Crohn's disease potentiates NF-kappaB activity and IL-1beta processing

21 January 2018

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Nod2-dependent regulation of innate and adaptive immunity in the intestinal tract

21 January 2018

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NOD1 and NOD2 signalling links ER stress with inflammation.

21 January 2018

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21 January 2018

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Nod2: A Critical Regulator of Ileal Microbiota and Crohn's Disease

21 January 2018

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

21 January 2018

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

21 January 2018

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CARD15 mutations in Blau syndrome

21 January 2018

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Signalling pathways and molecular interactions of NOD1 and NOD2

21 January 2018

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Crystal structure of NOD2 and its implications in human disease

21 January 2018

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Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism

21 January 2018

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PSORS2 is due to mutations in CARD14.

21 January 2018

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Familial pityriasis rubra pilaris is caused by mutations in CARD14.

21 January 2018

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Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis

21 January 2018

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CARD14-Mediated Activation of Paracaspase MALT1 in Keratinocytes: Implications for Psoriasis

21 January 2018

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Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

21 January 2018

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Interleukin 1β Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency.

21 January 2018

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Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

21 January 2018

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Familial haemolytic uraemic syndrome and an MCP mutation

21 January 2018

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Thrombomodulin mutations in atypical hemolytic-uremic syndrome

21 January 2018

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Complement factor H polymorphism and age-related macular degeneration

21 January 2018

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Complement factor H variant increases the risk of age-related macular degeneration

21 January 2018

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Complement factor H polymorphism in age-related macular degeneration

21 January 2018

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Complement Factor H Inhibits CD47-Mediated Resolution of Inflammation.

21 January 2018

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Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria

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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Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation

21 January 2018

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Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

21 January 2018

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An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

21 January 2018

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Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

21 January 2018

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The NAIP/NLRC4 inflammasomes

21 January 2018

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An inherited mutation in NLRC4 causes autoinflammation in human and mice

21 January 2018

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Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.

21 January 2018

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Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

21 January 2018

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NALP1 in vitiligo-associated multiple autoimmune disease

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

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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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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Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

21 January 2018

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Activated STING in a vascular and pulmonary syndrome

21 January 2018

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Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates the type I interferon pathway

21 January 2018

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Cyclic GMP-AMP is an endogenous second messenger in innate immune signaling by cytosolic DNA

21 January 2018

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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

21 January 2018

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

21 January 2018

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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

21 January 2018

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

21 January 2018

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

21 January 2018

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Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

21 January 2018

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Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

21 January 2018

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A20 restricts ubiquitination of pro-interleukin-1β protein complexes and suppresses NLRP3 inflammasome activity

21 January 2018

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Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.

21 January 2018

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Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

21 January 2018

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The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity

21 January 2018

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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

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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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

21 January 2018

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Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

21 January 2018

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Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β.

21 January 2018

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Early-onset stroke and vasculopathy associated with mutations in ADA2

21 January 2018

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Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

21 January 2018

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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

21 January 2018

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Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

21 January 2018

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

21 January 2018

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Use of canakinumab in the cryopyrin-associated periodic syndrome

21 January 2018

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A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease

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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Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition.

21 January 2018

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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

Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial.

21 January 2018

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Familial chilblain lupus due to a gain-of-function mutation in STING.

21 January 2018

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Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.

21 January 2018

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Allogeneic bone marrow transplantation in mevalonic aciduria

21 January 2018

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Long-term outcome of a successful cord blood stem cell transplant in mevalonate kinase deficiency.

21 January 2018

1 reference

Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

21 January 2018

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New monogenic autoinflammatory diseases--a clinical overview

21 January 2018

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Infant colitis—it's in the genes

21 January 2018

1 reference

Chemotherapy drugs induce pyroptosis through caspase-3 cleavage of a gasdermin.

21 January 2018

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7 January 2021

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

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7 January 2021

Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

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7 January 2021

Genetic predisposition (NLRP3 V198M mutation) for IL-1-mediated inflammation in a patient with Schnitzler syndrome

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7 January 2021

NLRP12 autoinflammatory disease: a Chinese case series and literature review

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7 January 2021

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome

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7 January 2021

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy

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7 January 2021

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7 January 2021

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

1 reference

7 January 2021

Negative regulation of the NLRP3 inflammasome by A20 protects against arthritis

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7 January 2021

Genetic studies into inherited and sporadic hemolytic uremic syndrome

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12 December 2020

Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene

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12 December 2020

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

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12 December 2020

Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever.

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12 December 2020

Identifiers

DOI

10.1038/NI.3777

1 reference

12 September 2017

1 reference

PubMed ID

28722725