The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation (Q39443996)

12 September 2017

title

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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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

volume

18

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12 September 2017

issue

8

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12 September 2017

page(s)

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

cites work

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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

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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

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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

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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

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12 September 2017

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