Uma forma intermediária de síndrome periódica associada à criopirina (CAPS) e é caracterizada por febre recorrente (com mal-estar e calafrios), erupção cutânea recorrente semelhante à urticária, surdez neurossensorial, sinais gerais de inflamação (vermelhidão ocular, dores de cabeça, artralgia/mialgia) e amiloidose secundária potencialmente fatal (tipo AA).
Introdução
O que você precisa saber de cara
Uma forma intermediária de síndrome periódica associada à criopirina (CAPS) e é caracterizada por febre recorrente (com mal-estar e calafrios), erupção cutânea recorrente semelhante à urticária, surdez neurossensorial, sinais gerais de inflamação (vermelhidão ocular, dores de cabeça, artralgia/mialgia) e amiloidose secundária potencialmente fatal (tipo AA).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 27 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 55 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis (PubMed:16407889, PubMed:18403674, PubMed:18604214, PubMed:23582325, PubMed:25686105, PubMed:27929086, PubMed:28656979, PubMed:28847925, PubMed:30487600, PubMed:30612879, PubMed:31086327, PubMed:31086329, PubMed:31189953, PubMed:33231615, PubMed:34133077, PubMed:34341353, PubMed:34512673, PubMe
Cytoplasm, cytosolInflammasomeCytoplasm, cytoskeleton, microtubule organizing centerGolgi apparatus membraneEndoplasmic reticulumMitochondrionSecretedNucleus
Familial cold autoinflammatory syndrome 1
A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis.
Medicamentos e terapias
Mecanismo: Interleukin-1 beta inhibitor
Mecanismo: Interleukin-1 beta inhibitor
Variantes genéticas (ClinVar)
292 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Muckle-Wells
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
17 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Efficacy of budesonide and vedolizumab for IBD-U associated with Muckle-Wells syndrome.
Cryopyrin-associated periodic syndrome (CAPS) is a rare, autosomal dominant inflammatory disorder linked to interleukin (IL)-1β dysregulation. Muckle-Wells syndrome (MWS) is a clinical subtype of CAPS that is often managed with canakinumab, an anti-IL-1β monoclonal antibody. Canakinumab has been approved for all phenotypes of CAPS, with no age restrictions, since 2011. Despite its efficacy in controlling systemic inflammation, its gastrointestinal side effects remain unclear. This report presents the case of a 28 year-old man who developed abdominal pain and diarrhea during treatment with canakinumab for MWS. Colonoscopy revealed findings suggestive of inflammatory bowel disease, and a diagnosis of IBD-unclassified (IBD-U) was made after exclusion of other conditions. Treatment with oral budesonide and vedolizumab led to marked clinical and endoscopic improvements, maintaining remission after budesonide discontinuation. Although the usefulness of systemic prednisolone and anti-TNFα antibody preparations for treating IBD-U in patients with MWS has been previously reported, to the best of our knowledge, this is the first report to highlight the therapeutic effects of budesonide and vedolizumab. Therefore, IBD-U should be considered in the differential diagnosis of patients with CAPS who develop gastrointestinal symptoms. Considering their favorable side-effect profiles, budesonide and vedolizumab may serve as promising treatment alternatives in the future.
Mice humanized by syntenic replacement with full-length NLRP3 disease-associated variants model the clinical cryopyrinopathy continuum.
Next-generation sequencing technologies are increasingly used to diagnose genetic disorders, particularly immunological diseases with broad and overlapping immune dysregulation. Cryopyrin-associated periodic syndromes (CAPS) are caused by gain-of-function mutations in NLRP3 and include 3 autoinflammatory diseases spanning a continuum of severity: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). Linking NLRP3 variants to protein dysfunction and clinical phenotype remains challenging because of genetic modifiers and environmental factors. We report the generation and phenotyping of 5 mouse lines expressing either the common human NLRP3 allele or 1 of 4 CAPS mutations spanning the disease spectrum from FCAS to NOMID. In these lines, the murine Nlrp3 locus is replaced by syntenic integration of the human NLRP3 locus, yielding 1 line with the common allele and 4 lines each carrying a distinct CAPS mutation. Unlike models in which a human mutation is introduced into the mouse protein, these lines recapitulate the spectrum of disease severity observed in humans. These findings support a model in which evaluation of nonsynonymous mutations in mice is optimized when introduced in the context of the human gene. This suggests that species-specific regulation and/or intramolecular epistasis may impact modeling of disease-associated variants.
PET-MRI biomarkers reveal efficacy of a novel NLRP3 inhibitor in Parkinson's disease models.
Parkinson's disease is one of the fastest-growing neurodegenerative disorders, with no effective treatments to modify its progression. Microglial-driven neuroinflammation, mediated by NLRP3 inflammasome activation, plays a key role in disease onset and progression. The NLRP3 inflammasome is upregulated in microglia from Parkinson's disease patients and activated by oxidative stress and a-synuclein aggregates, triggering the release of pro-inflammatory mediators that contribute to neuroinflammation and neuronal death. MCC950, the first described specific NLRP3 inhibitor, has shown promise in Parkinson's disease models but is limited by suboptimal pharmacokinetics and safety, hindering its clinical development. Here, we developed a novel NLRP3 inflammasome inhibitor, MCC7840 (also known as Inzomelid or Emlenoflast), and utilised clinically relevant PET-MRI imaging biomarkers to assess its therapeutic efficacy in preclinical models of Parkinson's disease. MCC7840 inhibited NLRP3 in human and mouse microglia with nanomolar potency, while demonstrating improved systemic exposure, half-life, brain permeability, and bioavailability compared to MCC950. In a murine NLRP3 gain-of-function model of Muckle-Wells syndrome, MCC7840 effectively inhibited mortality and demonstrated superior potency compared to MCC950. Chronic oral administration of MCC7840 protected against neuroinflammation, motor deficits, and dopamine loss in both 6-hydroxydopamine and preformed α-synuclein fibril mouse models of Parkinson's disease. Radiotracer imaging of multiple PET markers in the same mouse revealed that MCC7840 attenuated neuroinflammation ([18F]DPA-714), preserved dopamine uptake ([18F]FDOPA), mitigated dopamine transporter loss ([18F]FBCTT), and reduced blood-brain barrier leakage (gadolinium contrast MRI). Notably, MCC7840 was effective in a slowly progressing 12-month α-synuclein model, even when administered after symptom onset, 4 months post-α-synuclein injection. These findings highlight the utility of PET/MRI as a non-invasive tool to evaluate drug efficacy and support MCC7840, and other brain-penetrant NLRP3 inhibitors, as promising disease-modifying therapies for Parkinson's disease, warranting future clinical investigation.
Case Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID.
NLR family pyrin domain containing 3 (NLRP3)-associated autoinflammatory disease (NLRP3-AID), formerly known as cryopyrin-associated periodic syndrome, is a group of AIDs comprising neonatal-onset multisystem inflammatory disorder, Muckle-Wells syndrome, and familial cold autoinflammatory syndrome. Mutations in the NLRP3 gene are considered central to its pathogenesis. Here, we present a Chinese infant diagnosed with severe NLRP3-AID who carried a heterozygous variant in the NLRP3 gene. The patient exhibited recurrent episodes of fever, urticaria-like rashes, aseptic meningitis, and hearing loss. During hospitalization, elevated inflammatory markers and leukocytosis in body fluids were observed without evidence of infection. DNA sequencing identified a de novo heterozygous mutation, c.1006A > G (p.I336V), in the NLRP3 gene. We report an infant with NLRP3-AID and emphasize the importance of early diagnosis based on clinical manifestations.
Safety and effectiveness of canakinumab in Japanese patients with cryopyrin-associated periodic syndrome: final results from a post-marketing surveillance in Japan.
ObjectivesTo assess the real-world safety and effectiveness of canakinumab, a monoclonal anti-interleukin-1β antibody, in patients with cryopyrin-associated periodic syndrome (CAPS) in a real-world setting in Japan. MethodsAll patients with CAPS who received canakinumab treatment after drug approval in Japan were registered in a post-marketing all-patient surveillance with 2-year observation period and a follow-up period of up to 5 years. ResultsOf 93 patients in the safety analysis set, the proportion of patients with any adverse drug reactions (ADRs) and any serious ADRs was 33.33% and 4.30%, respectively. The most common ADRs were infections and infestations (21.51%). Of 70 new and 18 continuing patients (roll-over from a previous clinical trial) in the effectiveness analysis set, the proportion of responders among new and continuing patients who achieved both clinical and serological remission, was 78.57% and 83.33%, respectively at Week 24. Most responders remained without relapse after the remission until Week 104 (98.11% of new and 100% of continuing patients). Clinical symptoms related to auditory, joint, visual, renal, and central nervous system maintained or improved in majority of patients. ConclusionsCanakinumab was well-tolerated and effective during long-term treatment for patients with CAPS in the real-world setting.
Publicações recentes
Perioperative Management of Cryopyrin-Associated Periodic Syndrome, Muckle-Wells Subtype: A Case Report.
Mice humanized by syntenic replacement with full-length NLRP3 disease-associated variants model the clinical cryopyrinopathy continuum.
Safety and effectiveness of canakinumab in Japanese patients with cryopyrin-associated periodic syndrome: final results from a post-marketing surveillance in Japan.
PET-MRI biomarkers reveal efficacy of a novel NLRP3 inhibitor in Parkinson's disease models.
Efficacy of budesonide and vedolizumab for IBD-U associated with Muckle-Wells syndrome.
📚 EuropePMC127 artigos no totalmostrando 108
Mice humanized by syntenic replacement with full-length NLRP3 disease-associated variants model the clinical cryopyrinopathy continuum.
JCI insightSafety and effectiveness of canakinumab in Japanese patients with cryopyrin-associated periodic syndrome: final results from a post-marketing surveillance in Japan.
Modern rheumatologyPET-MRI biomarkers reveal efficacy of a novel NLRP3 inhibitor in Parkinson's disease models.
Brain : a journal of neurologyEfficacy of budesonide and vedolizumab for IBD-U associated with Muckle-Wells syndrome.
Clinical journal of gastroenterologyCase Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID.
Frontiers in pediatricsGastrointestinal Involvement in Muckle-Wells Syndrome: A Systematic Review of Clinical Presentation, Diagnostic Patterns, and Therapeutic Response.
CureusAuthor Correction: KN3014, a piperidine-containing small compound, inhibits auto-secretion of IL-1β from PBMCs in a patient with Muckle-Wells syndrome.
Scientific reportsRecurrent Urticaria: A Rare Cryopyrin-Associated Periodic Syndrome - Muckle-Wells Syndrome.
Case reports in dermatologyNucleotide-binding domain, leucine-rich repeat, and pyrin domain-containing protein 3 inflammasome: From action mechanism to therapeutic target in clinical trials.
World journal of gastrointestinal oncologyRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergologie selectGlucose-oxygen deprivation constrains HMGCR function and Rac1 prenylation and activates the NLRP3 inflammasome in human monocytes.
Science signalingClinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.
Arthritis & rheumatology (Hoboken, N.J.)Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria.
BMJ case reportsInflammasome activity is controlled by ZBTB16-dependent SUMOylation of ASC.
Nature communicationsA case of cryopyrin-associated periodic syndrome due to somatic mosaic mutation complicated with recurrent circinate erythematous psoriasis.
Modern rheumatology case reportsOcular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study.
Clinical and experimental rheumatologyMegakaryocyte NLRP3 hyperactivation induces mild anemia and potentiates inflammatory response in mice.
Frontiers in immunologyJT002, a small molecule inhibitor of the NLRP3 inflammasome for the treatment of autoinflammatory disorders.
Scientific reportsPharmacology of a Potent and Novel Inhibitor of the NOD-Like Receptor Pyrin Domain-Containing Protein 3 (NLRP3) Inflammasome that Attenuates Development of Nonalcoholic Steatohepatitis and Liver Fibrosis.
The Journal of pharmacology and experimental therapeuticsSocio-professional impact and quality of life of cryopyrin-associated periodic syndromes in 54 patients in adulthood.
Clinical and experimental rheumatologyCase report: The altered rate of monocytic cell death in a patient of Muckle-Wells syndrome with atypical clinical course.
Frontiers in pediatricsIdentification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature.
Pediatric rheumatology online journalSpectrum of auto-inflammatory diseases in Morocco: a monocentric experience.
Rheumatology advances in practiceIn-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation.
Clinical immunology (Orlando, Fla.)Equally potent: Nlrp3 mutation in macrophages or neutrophils is sufficient to drive autoinflammation.
EMBO reportsReactogenicity and immunogenicity of the second COVID-19 vaccination in patients with inborn errors of immunity or mannan-binding lectin deficiency.
Frontiers in immunologyReal-world safety and effectiveness of canakinumab in patients with cryopyrin-associated periodic fever syndrome: a long-term observational study in Japan.
Clinical and experimental rheumatologySystemic autoinflammatory diseases in pediatric population.
Asia Pacific allergyEfficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation.
Clinical rheumatologyAA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.
Rheumatology (Oxford, England)A three-generation Muckle-Wells syndrome family: Detailed family history, physical examination, and inter-departmental collaboration.
Modern rheumatology case reportsBilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome.
Life (Basel, Switzerland)Fever, abdominal pain, serositis, arthralgia, hearing loss, proteinuria, and a family history: Muckle Wells syndrome.
Lancet (London, England)Rare Clinical Case of Cryopyrin-associated Periodic Syndrome Presented with Ankylosing Spondylitis: A Case Report.
Current rheumatology reviewsCase of Muckle-Wells syndrome with obesity.
The Journal of dermatologyCryopyrin-associated periodic syndrome with inflammatory bowel disease: A case study.
JGH open : an open access journal of gastroenterology and hepatologyLong-term safety and effectiveness of canakinumab therapy in patients with cryopyrin-associated periodic syndrome: results from the β-Confident Registry.
RMD openA Case of Hearing Impairment with Renal Dysfunction.
Indian journal of nephrologyPostpartum fever and radicular low back pain.
The American journal of emergency medicineDiagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?
Journal of clinical medicineComputational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.
Frontiers in immunologyChronic urticaria with inflammation.
European journal of internal medicineCase of Muckle-Wells syndrome with erythema dominantly infiltrated by lymphocytes.
The Journal of dermatologyOutcome of Cochlear Implantation in NLRP3-related Autoinflammatory Inner Ear Disorders.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologySecondary Intracranial Hypertension in Pediatric Patients With Cryopyrin-Associated Periodic Syndrome.
Pediatric neurologyKN3014, a piperidine-containing small compound, inhibits auto-secretion of IL-1β from PBMCs in a patient with Muckle-Wells syndrome.
Scientific reportsAdditional Benefit of Canakinumab on Proteinuria in a Case With Muckle-Wells Syndrome in Remission Under Anakinra.
Archives of rheumatologyMutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature.
Journal of pediatric geneticsOff-Label studies on anakinra in dermatology: a review.
The Journal of dermatological treatmentMuckle-Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family.
World journal of pediatrics : WJPThe NLRP3 inflammasome: a new player in neurological diseases.
Turkish journal of biology = Turk biyoloji dergisiCryopyrin-associated periodic fever syndrome in children: A case-based review.
International journal of rheumatic diseasesThe Long-Term Efficacy of Cochlear Implantation for Hearing Loss in Muckel-Wells Syndrome.
The journal of international advanced otologyThe NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.
ACR open rheumatologyRecognising and understanding cryopyrin-associated periodic syndrome in adults.
British journal of nursing (Mark Allen Publishing)Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger.
Arthritis & rheumatology (Hoboken, N.J.)Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease.
Frontiers in immunologySpectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyState of care for patients with systemic autoinflammatory diseases - Results of a tertiary care survey.
The World Allergy Organization journalDiagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Rheumatology internationalOcular Involvement in Muckle-Wells Syndrome.
Ocular immunology and inflammationEarly canakinumab therapy for the sensorineural deafness in a family with Muckle-Wells syndrome due to a novel mutation of NLRP3 gene.
Clinical rheumatology[Renal amyloidosis revealing a cryopyrin associated periodic syndrome].
Annales de pathologieA Case of Muckle-Wells Syndrome due to novel NLRP3 mutation.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGErythema nodosum in an adolescent patient with cryopyrin-associated periodic syndrome.
Clinical case reportsThe Future of IL-1 Targeting in Kidney Disease.
DrugsC3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review.
Rheumatology internationalDe novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
Molecular genetics and metabolism reportsDecreased quality of life and societal impact of cryopyrin-associated periodic syndrome treated with canakinumab: a questionnaire based cohort study.
Orphanet journal of rare diseasesResolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the literature.
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-facialeA Case of Amyloidosis Caused by Sporadic Muckle-Wells Syndrome: Response to Treatment With Anakinra.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases[Cryopyrin-associated periodic syndromes].
La Revue de medecine interneCryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.
The Journal of rheumatology[Autoinflammatory diseases and kidney involvement].
Terapevticheskii arkhivMuckle-Wells syndrome: clinical perspectives.
Open access rheumatology : research and reviewsMuckle-Wells syndrome in the setting of basal cell nevus syndrome.
CutisPharmacological treatment options for cryopyrin-associated periodic syndromes.
Expert review of clinical pharmacologyPeriodic fever: From Still's disease to Muckle-Wells syndrome.
Reumatologia clinicaINTERMEDIATE UVEITIS ASSOCIATED WITH PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, AND CERVICAL ADENITIS SYNDROME.
Retinal cases & brief reportsEndometriosis in the setting of Muckle-Wells syndrome treated with an IL-1β antagonist.
European journal of dermatology : EJDPlacental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome.
Journal of clinical immunologyA Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome.
Chinese medical journalHuman NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) inflammasome activity is regulated by and potentially targetable through Bruton tyrosine kinase.
The Journal of allergy and clinical immunology[Genetics of cryopyrin-associated periodic syndrome].
Zeitschrift fur RheumatologieMuckle-Wells syndrome in Chinese patients: a single center case series.
Clinical rheumatologyAn NLRP3 Mutation Causes Arthropathy and Osteoporosis in Humanized Mice.
Cell reportsNLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.
Neural plasticityCryopyrin-associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics.
Journal of paediatrics and child healthMuckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.
Pediatric dermatologyGuidelines for the management and treatment of periodic fever syndromes: Cryopyrin-associated periodic syndromes (cryopyrinopathies - CAPS).
Revista brasileira de reumatologiaNLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.
The Journal of rheumatologyReal-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome.
Rheumatology (Oxford, England)Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.
Pediatric rheumatology online journalCurrent treatment recommendations and considerations for cryopyrin-associated periodic syndrome.
Expert review of clinical immunologyClinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Autoimmunity reviewsMusculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.
Arthritis & rheumatology (Hoboken, N.J.)Muckle-Wells syndrome: a rare hereditary cryopyrin-associated periodic syndrome.
International journal of rheumatic diseasesImpact of IL-1 inhibition on fatigue associated with autoinflammatory syndromes.
Modern rheumatology[Chronic cutaneous lesions in a 73-year-old patient].
La Revue de medecine interneDiagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Expert review of clinical immunologyCAPS--pathogenesis, presentation and treatment of an autoinflammatory disease.
Seminars in immunopathologyMuckle-Wells syndrome in an Indian family associated with NLRP3 mutation.
Journal of postgraduate medicineThe ketone metabolite β-hydroxybutyrate blocks NLRP3 inflammasome-mediated inflammatory disease.
Nature medicineA small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.
Nature medicine[Papillary edema in Muckle-Wells syndrome].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft[Cryopyrine-associated periodic syndrome: CAPS seen from adulthood].
La Revue de medecine interneUrticarial vasculitis and urticarial autoinflammatory syndromes.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografiaPeriodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II.
Iranian journal of pediatricsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Muckle-Wells
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Efficacy of budesonide and vedolizumab for IBD-U associated with Muckle-Wells syndrome.
- Mice humanized by syntenic replacement with full-length NLRP3 disease-associated variants model the clinical cryopyrinopathy continuum.
- PET-MRI biomarkers reveal efficacy of a novel NLRP3 inhibitor in Parkinson's disease models.
- Case Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID.
- Safety and effectiveness of canakinumab in Japanese patients with cryopyrin-associated periodic syndrome: final results from a post-marketing surveillance in Japan.
- Perioperative Management of Cryopyrin-Associated Periodic Syndrome, Muckle-Wells Subtype: A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:575(Orphanet)
- OMIM OMIM:191900(OMIM)
- MONDO:0008633(MONDO)
- GARD:8472(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1538218(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar