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Referências encontradas : 380 [refinar]
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[PMID]:28454496
[Au] Autor:La Torre F; Caparello MC; Cimaz R
[Ad] Endereço:a Pediatric Rheumatology Regional Center, Department of Pediatrics , Antonio Perrino Hospital , Brindisi , Puglia , Italy.
[Ti] Título:Canakinumab for the treatment of TNF-receptor associated periodic syndrome.
[So] Source:Expert Rev Clin Immunol;13(6):513-523, 2017 06.
[Is] ISSN:1744-8409
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: TNF-receptor-associated periodic syndrome is an autoinflammatory disorder caused by mutations in TNF receptor superfamily 1A gene. The molecular pathogenesis of TRAPS remains unclear; it is known that a key role is played by mutations in TNFRSF1A that induce the hypersecretion of pro-inflammatory cytokines as well as IL-1ß, resulting in uncontrolled inflammatory reactions. Furthermore, TNFRSF1A gene mutations result in intracellular stress ultimately leading to increased production of interleukin-1ß, but the exact mechanism referred to in the connection between TNFRSF1A mutation and increased release of IL-1ß, is still under study. This explains why IL-1 inhibition treatment can be effective in treating TRAPS patients. The purpose of this review is to discuss the safety and efficacy of canakinumab, a high-affinity human monoclonal anti IL-1ß antibody. Areas covered: The data obtained from case reports, case series, Phase II study and a phase III randomized, double-blind, placebo controlled trial have been analyzed. Efficacy and safety profiles of canakinumab are discussed. Expert commentary: Was discussed an overview of treatment options in TRAPS patients. The understanding of pathogenesis of TNF-receptor-associated periodic syndrome led to realize why TRAPS patients respond to IL-1 inhibition. Canakinumab became approved for the treatment in TRAPS patients very recently.
[Mh] Termos MeSH primário: Anti-Inflamatórios/uso terapêutico
Anticorpos Monoclonais/uso terapêutico
Febre/terapia
Doenças Hereditárias Autoinflamatórias/terapia
Imunoterapia/métodos
Interleucina-1beta/imunologia
[Mh] Termos MeSH secundário: Ensaios Clínicos como Assunto
Aprovação de Drogas
Febre/genética
Febre/imunologia
Doenças Hereditárias Autoinflamatórias/genética
Doenças Hereditárias Autoinflamatórias/imunologia
Seres Humanos
Mutação/genética
Receptores Tipo I de Fatores de Necrose Tumoral/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Anti-Inflammatory Agents); 0 (Antibodies, Monoclonal); 0 (Interleukin-1beta); 0 (Receptors, Tumor Necrosis Factor, Type I); 37CQ2C7X93 (canakinumab)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170430
[St] Status:MEDLINE
[do] DOI:10.1080/1744666X.2017.1324783


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[PMID]:28722725
[Au] Autor:Manthiram K; Zhou Q; Aksentijevich I; Kastner DL
[Ad] Endereço:Inflammatory Disease Section, Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA.
[Ti] Título:The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.
[So] Source:Nat Immunol;18(8):832-842, 2017 Jul 19.
[Is] ISSN:1529-2916
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Autoinflammatory diseases were first recognized nearly 20 years ago as distinct clinical and immunological entities caused by dysregulation in the innate immune system. Since then, advances in genomic techniques have led to the identification of new monogenic disorders and their corresponding signaling pathways. Here we review these monogenic autoinflammatory diseases, ranging from periodic fever syndromes caused by dysregulated inflammasome-mediated production of the cytokine IL-1ß to disorders arising from perturbations in signaling by the transcription factor NF-κB, ubiquitination, cytokine signaling, protein folding, type I interferon production and complement activation, and we further examine their molecular mechanisms. We also explore the overlap among autoinflammation, autoimmunity and immunodeficiency, and pose a series of unanswered questions that are expected to be central in autoinflammatory disease research in the coming decade.
[Mh] Termos MeSH primário: Autoimunidade/imunologia
Doenças Hereditárias Autoinflamatórias/imunologia
Imunidade Inata/imunologia
Síndromes de Imunodeficiência/imunologia
Inflamassomos/imunologia
Inflamação/imunologia
[Mh] Termos MeSH secundário: Ativação do Complemento/imunologia
Citocinas/imunologia
Doenças Hereditárias Autoinflamatórias/genética
Seres Humanos
Interferon Tipo I/imunologia
Interleucina-1beta/imunologia
NF-kappa B/imunologia
Dobramento de Proteína
Transdução de Sinais
Ubiquitinação/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Cytokines); 0 (IL1B protein, human); 0 (Inflammasomes); 0 (Interferon Type I); 0 (Interleukin-1beta); 0 (NF-kappa B)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171020
[Lr] Data última revisão:
171020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170720
[St] Status:MEDLINE
[do] DOI:10.1038/ni.3777


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[PMID]:28672419
[Au] Autor:Kümmerle-Deschner JB
[Ti] Título:[Autoinflammatory Diseases as a Differential Diagnosis of Fever of Unknown Origin].
[Ti] Título:Autoinflammatorische Erkrankungen als Differenzialdiagnose des Fiebers unklarer Genese..
[So] Source:Dtsch Med Wochenschr;142(13):969-978, 2017 Jul.
[Is] ISSN:1439-4413
[Cp] País de publicação:Germany
[La] Idioma:ger
[Ab] Resumo:Fever is the most leading symptom of autoinflammatory diseases (AID). Therefore, AID have to be considered in differential diagnosis concerning fever of unknown origin. Unspecific Inflammatory manifestations may lead to misinterpretations that possibly cause irreversible organ damage. Effective treatment options are available and imply profound diagnostics.
[Mh] Termos MeSH primário: Febre de Causa Desconhecida/diagnóstico
Febre de Causa Desconhecida/etiologia
Doenças Hereditárias Autoinflamatórias/complicações
Doenças Hereditárias Autoinflamatórias/diagnóstico
[Mh] Termos MeSH secundário: Diagnóstico Diferencial
Medicina Baseada em Evidências
Febre de Causa Desconhecida/imunologia
Doenças Hereditárias Autoinflamatórias/imunologia
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170704
[St] Status:MEDLINE
[do] DOI:10.1055/s-0043-103468


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[PMID]:28497352
[Au] Autor:Ozen S; Demir S
[Ad] Endereço:Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey. sezaozen@hacettepe.edu.tr.
[Ti] Título:Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient.
[So] Source:Paediatr Drugs;19(4):303-311, 2017 Aug.
[Is] ISSN:1179-2019
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD). Recent advances in our understanding of the molecular and pathophysiological basis of autoinflammatory diseases have provided new treatment strategies. Patients with periodic fever syndromes have clearly benefited from anti-interleukin (IL)-1 treatment. Colchicine is still the mainstay of FMF therapy, but IL-1 blockade is also effective if colchicine fails. Early diagnosis and effective treatment can prevent irreversible organ damage. The scope of pathogenic mutations and more targeted therapy for better management of these rare diseases remains to be defined.
[Mh] Termos MeSH primário: Doenças Hereditárias Autoinflamatórias/tratamento farmacológico
[Mh] Termos MeSH secundário: Anticorpos Monoclonais/uso terapêutico
Criança
Colchicina/uso terapêutico
Síndromes Periódicas Associadas à Criopirina/diagnóstico
Síndromes Periódicas Associadas à Criopirina/tratamento farmacológico
Febre Familiar do Mediterrâneo/diagnóstico
Febre Familiar do Mediterrâneo/tratamento farmacológico
Febre/diagnóstico
Febre/tratamento farmacológico
Doenças Hereditárias Autoinflamatórias/diagnóstico
Seres Humanos
Interleucina-1/antagonistas & inibidores
Interleucina-1/imunologia
Deficiência de Mevalonato Quinase/diagnóstico
Deficiência de Mevalonato Quinase/tratamento farmacológico
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antibodies, Monoclonal); 0 (Interleukin-1); SML2Y3J35T (Colchicine)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170801
[Lr] Data última revisão:
170801
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE
[do] DOI:10.1007/s40272-017-0232-6


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[PMID]:28472921
[Au] Autor:Metzger J; Nolte A; Uhde AK; Hewicker-Trautwein M; Distl O
[Ad] Endereço:Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Bünteweg 17p, 30559, Hannover, Germany. julia.metzger@tiho-hannover.de.
[Ti] Título:Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID).
[So] Source:BMC Genomics;18(1):348, 2017 05 04.
[Is] ISSN:1471-2164
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Autoinflammatory diseases in dogs are characterized by complex disease processes with varying clinical signs. In Shar-Pei, signs of inflammation including fever and arthritis are known to be related with a breed-specific predisposition for Shar-Pei Autoinflammatory Disease (SPAID). RESULTS: Clinical and histopathological examinations of two severely SPAID-affected Shar-Pei revealed signs of inflammation including fever, arthritis, and perivascular and diffuse dermatitis in both dogs. A multifocal accumulation of amyloid in different organs was found in one SPAID-affected case. Whole genome sequencing resulted in 37 variants, which were homozygous mutant private mutations in SPAID-affected Shar-Pei. Nine SNVs with predicted damaging effects and three INDELs were further investigated in 102 Shar-Pei affected with SPAID, 62 unaffected Shar-Pei and 162 controls from 11 different dog breeds. The results showed the missense variant MTBP:g.19383758G > A in MTBP to be highly associated with SPAID in Shar-Pei. In the region of this gene a large ROH (runs of homozygosity) region could be detected exclusively in the two investigated SPAID-affected Shar-Pei compared to control dog breeds. No further SPAID-associated variant with predicted high or moderate effects could be found in genes identified in ROH regions. This MTBP variant was predicted to affect the MDN2-binding protein domain and consequently promote proinflammatory reactions. In the investigated group of Shar-Pei older than six years all dogs with the mutant genotype A/A were SPAID-affected whereas SPAID-unaffected dogs harbored the homozygous wildtype (G/G). Shar-Pei with a heterozygous genotype (G/A) were shown to have a 2.13-fold higher risk for disease development, which gave evidence for an incomplete dominant mode of inheritance. CONCLUSIONS: The results of this study give strong evidence for a variant in MTBP related with proinflammatory processes via MTBP-MDM2 pathway. Thus, these results enable a reliable detection of SPAID in Shar-Pei dogs.
[Mh] Termos MeSH primário: Proteínas de Transporte/genética
Doenças do Cão/genética
Doenças Hereditárias Autoinflamatórias/veterinária
[Mh] Termos MeSH secundário: Animais
Análise Mutacional de DNA
Cães
Expressão Gênica
Estudos de Associação Genética
Predisposição Genética para Doença
Doenças Hereditárias Autoinflamatórias/genética
Homozigoto
Rim/patologia
Mutação de Sentido Incorreto
Pele/imunologia
Pele/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Carrier Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171120
[Lr] Data última revisão:
171120
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170506
[St] Status:MEDLINE
[do] DOI:10.1186/s12864-017-3737-z


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[PMID]:28390799
[Au] Autor:Igawa S; Di Nardo A
[Ad] Endereço:Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan; Department of Dermatology, University of California, San Diego, La Jolla, Calif.
[Ti] Título:Skin microbiome and mast cells.
[So] Source:Transl Res;184:68-76, 2017 Jun.
[Is] ISSN:1878-1810
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Microbiotas in the skin have high levels of diversity at the species level, but low phylum-level diversity. The human skin microbiota is composed predominantly of Gram-positive bacteria especially Actinobacteria, which are the dominant bacterial phylum on the skin. Lipoteichoic acid (LTA) is a major constituent of the cell wall of Gram-positive bacteria and is therefore abundant in the skin microbiome. Recent studies have shown that LTA, and other bacterial products, permeates the whole skin and comes into contact with epidermal and dermal cells, including mast cells (MCs), with the potential of stimulating MC toll-like receptors (TLRs). MCs express a variety of pattern recognition receptors, including TLRs, on their cell surface in order to detect bacteria. Recent publications suggest that the skin microbiome has influence on MC migration, localization and maturation in the skin. Germ free (no microbiome) animals possess an underdeveloped immune system and immature MCs. Despite much research done on skin microbiota and many papers describing skin interaction with "the good microbiota", there is still controversy regarding how mast cells, communicate with surface bacteria. The present review intends to quell the controversy by illuminating the communication mechanism between bacteria and MCs.
[Mh] Termos MeSH primário: Dermatite/patologia
Mastócitos/fisiologia
Microbiota
Dermatopatias/patologia
Pele/microbiologia
[Mh] Termos MeSH secundário: Dermatite/microbiologia
Doenças Hereditárias Autoinflamatórias/microbiologia
Doenças Hereditárias Autoinflamatórias/patologia
Seres Humanos
Dermatopatias/virologia
Dermatopatias Bacterianas/patologia
Viroses/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170410
[St] Status:MEDLINE


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[PMID]:28381287
[Au] Autor:Wittkowski H; Hinze C; Häfner-Harms S; Oji V; Masjosthusmann K; Monninger M; Grenzebach U; Foell D
[Ad] Endereço:Department of Paediatric Rheumatology and Immunology, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Bld. W30, D-48149, Muenster, Germany. helmut.wittkowski@ukmuenster.de.
[Ti] Título:Munchausen by proxy syndrome mimicking systemic autoinflammatory disease: case report and review of the literature.
[So] Source:Pediatr Rheumatol Online J;15(1):19, 2017 Apr 05.
[Is] ISSN:1546-0096
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Systemic autoinflammatory diseases (SAIDs) represent a growing number of monogenic, polygenic or multifactorial disorders that are often difficult to diagnose. CASE PRESENTATION: Here we report a patient who was initially erroneously diagnosed and treated for SAID. Symptoms consisted of recurrent fever, erythematous and/or blistering skin lesions, angioedema, susceptibility to bleeding, external ear infections and reversible anisocoria in the absence of laboratory evidence of systemic inflammation. After two and a half years of extensive diagnostic work-up and multiple empirical therapies, a final diagnosis of Munchausen by proxy syndrome (MBPS) was established. CONCLUSIONS: The diagnosis of SAID needs to be carefully reassessed if measurable systemic inflammation is missing, and MBPS should be included in the differential diagnosis.
[Mh] Termos MeSH primário: Doenças Hereditárias Autoinflamatórias/diagnóstico
Síndrome de Munchausen Causada por Terceiro/diagnóstico
[Mh] Termos MeSH secundário: Pré-Escolar
Diagnóstico Diferencial
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170816
[Lr] Data última revisão:
170816
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170407
[St] Status:MEDLINE
[do] DOI:10.1186/s12969-017-0152-6


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[PMID]:28375838
[Au] Autor:Cantarini L; Pucino V; Vitale A; Lucherini OM; Obici L; Matarese G
[Ad] Endereço:Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Italy. cantariniluca@hotmail.com.
[Ti] Título:Circulating intercellular adhesion molecule 1 (sICAM-1) in tumour necrosis factor receptor-associated periodic syndrome (TRAPS).
[So] Source:Clin Exp Rheumatol;35 Suppl 104(2):13-14, 2017 May-Jun.
[Is] ISSN:0392-856X
[Cp] País de publicação:Italy
[La] Idioma:eng
[Mh] Termos MeSH primário: Febre/sangue
Doenças Hereditárias Autoinflamatórias/sangue
Molécula 1 de Adesão Intercelular/sangue
[Mh] Termos MeSH secundário: Adulto
Biomarcadores/sangue
Estudos de Casos e Controles
Feminino
Febre/diagnóstico
Febre/genética
Predisposição Genética para Doença
Doenças Hereditárias Autoinflamatórias/diagnóstico
Doenças Hereditárias Autoinflamatórias/genética
Seres Humanos
Masculino
Meia-Idade
Mutação
Fenótipo
Receptores Tipo I de Fatores de Necrose Tumoral/genética
Regulação para Cima
[Pt] Tipo de publicação:LETTER
[Nm] Nome de substância:
0 (Biomarkers); 0 (ICAM1 protein, human); 0 (Receptors, Tumor Necrosis Factor, Type I); 0 (TNFRSF1A protein, human); 126547-89-5 (Intercellular Adhesion Molecule-1)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170923
[Lr] Data última revisão:
170923
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170405
[St] Status:MEDLINE


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[PMID]:28361334
[Au] Autor:Cox AJ; Zhao Y; Ferguson PJ
[Ad] Endereço:Department of Pediatrics and the Inflammation Program, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
[Ti] Título:Chronic Recurrent Multifocal Osteomyelitis and Related Diseases-Update on Pathogenesis.
[So] Source:Curr Rheumatol Rep;19(4):18, 2017 Apr.
[Is] ISSN:1534-6307
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE OF REVIEW: We focus on recent advances in the understanding of the genetic, molecular, immunologic, and environmental factors implicated in the pathogenesis of autoinflammatory bone diseases including the syndromic and non-syndromic forms of chronic recurrent multifocal osteomyelitis (CRMO). RECENT FINDINGS: Evidence implicating the IL-1 pathway in the pathogenesis of the Mendelian forms of CRMO is growing. LIPIN2 can regulate the NLRP3 inflammasome by affecting P2X7 receptor activation, and intracellular cholesterol can modulate P2X7R currents. Work in a mouse model of CRMO demonstrates that dietary manipulation can alter the microbiome and protect these mice from the development of sterile osteomyelitis in vivo. Although the genetic and immunologic basis of non-syndromic CRMO remains only partially understood, the IL-1 pathway is central to the pathogenesis in the syndromic autoinflammatory bone disorders. Recent work implicates lipids and the microbiome in sterile osteomyelitis.
[Mh] Termos MeSH primário: Doenças Hereditárias Autoinflamatórias/etiologia
Osteomielite/etiologia
[Mh] Termos MeSH secundário: Anemia Diseritropoética Congênita/etiologia
Animais
Moléculas de Adesão Celular/genética
Proteínas do Citoesqueleto/genética
Modelos Animais de Doenças
Seres Humanos
Inflamassomos/fisiologia
Interleucina-1/imunologia
Camundongos
Microbiota
Proteínas Nucleares/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Cell Adhesion Molecules); 0 (Cytoskeletal Proteins); 0 (FBLIM1 protein, human); 0 (Inflammasomes); 0 (Interleukin-1); 0 (LPIN2 protein, human); 0 (Nuclear Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170401
[St] Status:MEDLINE
[do] DOI:10.1007/s11926-017-0645-9


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[PMID]:28137891
[Au] Autor:Cheung MS; Theodoropoulou K; Lugrin J; Martinon F; Busso N; Hofer M
[Ad] Endereço:Novartis Institutes for Biomedical Research, 4002 Basel, Switzerland.
[Ti] Título:Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome Is Associated with a CARD8 Variant Unable To Bind the NLRP3 Inflammasome.
[So] Source:J Immunol;198(5):2063-2069, 2017 Mar 01.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a relatively common autoinflammatory condition that primarily affects children. Although tendencies were reported for this syndrome, genetic variations influencing risk and disease progression are poorly understood. In this study, we performed next-generation sequencing for 82 unrelated PFAPA patients and identified a frameshift variant in the gene (CARD8-FS). Subsequently, we compared the frequency of CARD8-FS carriers in our PFAPA cohort (13.9%) with a healthy local population group (3.2%) and found a significant association between the CARD8-FS polymorphism and risk for PFAPA syndrome ( = 0.012; odds ratio: 4.96 [95% confidence interval, 1.33-18.47]). Moreover, CARD8-FS carriers display a distinct PFAPA phenotype that is characterized by a higher prevalence of symptoms out of flares and oral aphthosis (both = 0.02 compared with PFAPA patients without the frameshift variant). CARD8 encodes a protein component of the NLRP3 inflammasome, which plays an important role in inflammation and contributes to the pathology of various autoinflammatory diseases. We found that the CARD8-FS variant led to a truncated CARD8 protein lacking the FIIND and CARD domains. As a result, the mutant CARD8 protein lost the ability to interact with the NOD domain of NLRP3. In summary, these results identify a new CARD8 variant associated with PFAPA and further suggest that disruption of the interaction between CARD8 and NLRP3 can regulate autoinflammation in patients.
[Mh] Termos MeSH primário: Proteínas Adaptadoras de Sinalização CARD/genética
Febre/genética
Mutação da Fase de Leitura/genética
Doenças Hereditárias Autoinflamatórias/genética
Proteínas de Neoplasias/genética
[Mh] Termos MeSH secundário: Proteínas Adaptadoras de Sinalização CARD/metabolismo
Criança
Análise Mutacional de DNA
Frequência do Gene
Estudos de Associação Genética
Predisposição Genética para Doença
Genótipo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Inflamassomos/metabolismo
Linfadenite
Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo
Proteínas de Neoplasias/metabolismo
Faringite
Polimorfismo de Nucleotídeo Único
Ligação Proteica/genética
Risco
Estomatite Aftosa
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CARD Signaling Adaptor Proteins); 0 (CARD8 protein, human); 0 (Inflammasomes); 0 (NLR Family, Pyrin Domain-Containing 3 Protein); 0 (NLRP3 protein, human); 0 (Neoplasm Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170201
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1600760



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BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde