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[PMID]:29025965
[Au] Autor:Hatipoglu N; Güvenç BH; Deswarte C; Koksalan K; Boisson-Dupuis S; Casanova JL; Bustamante J
[Ad] Endereço:Pediatrics Unit and naydin9@mynet.com.
[Ti] Título:Inherited IL-12Rß1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report.
[So] Source:Pediatrics;140(5), 2017 Nov.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Tuberculosis is a major worldwide problem, and protection from it is achieved mainly by live attenuated bacille Calmette-Guérin vaccine, which is capable of causing disease in immunocompromised host. Oral thrush is abnormal in healthy children, which suggests an underlying immunodeficiency. Mendelian susceptibility to mycobacterial disease is a rare primary immunodeficiency characterized by a selective predisposition to weakly virulent and and also predisposition to chronic mucocutaneous candidiasis. Interleukin 12 receptor ß1 (IL-12Rß1) deficiency is the most common disease of Mendelian susceptibility to mycobacterial disease, and to date only 50 IL-12Rß1 deficient patients with clinical signs of chronic mucocutaneous candidiasis have been reported. We report a 2.5-year-old daughter of consanguineous parents with both regional bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis carrying biallelic R175W mutation in the gene, resulting in complete loss of expression of IL-12Rß1. To our knowledge, this is the first report of bacille Calmette-Guérin lymphadenitis with concurrent oral candidiasis displaying such a mutation. New mutations and wide clinical diversities are the indisputable fact of populations with a high rate of consanguineous marriages.
[Mh] Termos MeSH primário: Vacina BCG/efeitos adversos
Candidíase Bucal/diagnóstico por imagem
Linfadenite/diagnóstico por imagem
Receptores de Interleucina-12/deficiência
[Mh] Termos MeSH secundário: Candidíase Bucal/genética
Pré-Escolar
Feminino
Seres Humanos
Linfadenite/induzido quimicamente
Linfadenite/complicações
Linfadenite/genética
Linhagem
Receptores de Interleucina-12/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BCG Vaccine); 0 (IL12RB1 protein, human); 0 (Receptors, Interleukin-12)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171014
[St] Status:MEDLINE


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[PMID]:28947543
[Au] Autor:LaMere SA; Thompson RC; Meng X; Komori HK; Mark A; Salomon DR
[Ad] Endereço:Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037 salamere@ucsd.edu.
[Ti] Título:H3K27 Methylation Dynamics during CD4 T Cell Activation: Regulation of JAK/STAT and IL12RB2 Expression by JMJD3.
[So] Source:J Immunol;199(9):3158-3175, 2017 Nov 01.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The changes to the epigenetic landscape in response to Ag during CD4 T cell activation have not been well characterized. Although CD4 T cell subsets have been mapped globally for numerous epigenetic marks, little has been done to study their dynamics early after activation. We have studied changes to promoter H3K27me3 during activation of human naive and memory CD4 T cells. Our results show that these changes occur relatively early (1 d) after activation of naive and memory cells and that demethylation is the predominant change to H3K27me3 at this time point, reinforcing high expression of target genes. Additionally, inhibition of the H3K27 demethylase JMJD3 in naive CD4 T cells demonstrates how critically important molecules required for T cell differentiation, such as JAK2 and IL12RB2, are regulated by H3K27me3. Our results show that H3K27me3 is a dynamic and important epigenetic modification during CD4 T cell activation and that JMJD3-driven H3K27 demethylation is critical for CD4 T cell function.
[Mh] Termos MeSH primário: Linfócitos T CD4-Positivos/imunologia
Regulação Enzimológica da Expressão Gênica/imunologia
Histonas/imunologia
Janus Quinase 2/imunologia
Histona Desmetilases com o Domínio Jumonji/imunologia
Ativação Linfocitária
Processamento de Proteína Pós-Traducional/imunologia
Receptores de Interleucina-12/imunologia
Fatores de Transcrição STAT/imunologia
[Mh] Termos MeSH secundário: Epigênese Genética/imunologia
Seres Humanos
Metilação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Histones); 0 (IL12RB2 protein, human); 0 (Receptors, Interleukin-12); 0 (STAT Transcription Factors); EC 1.14.11.- (Jumonji Domain-Containing Histone Demethylases); EC 1.14.11.- (KDM6B protein, human); EC 2.7.10.2 (JAK2 protein, human); EC 2.7.10.2 (Janus Kinase 2)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171110
[Lr] Data última revisão:
171110
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170927
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1700475


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[PMID]:28630278
[Au] Autor:Hummel TM; Ackfeld T; Schönberg M; Ciupka G; Schulz F; Oberdoerster A; Grötzinger J; Scheller J; Floss DM
[Ad] Endereço:Institute of Biochemistry and Molecular Biology II, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
[Ti] Título:Synthetic Deletion of the Interleukin 23 Receptor (IL-23R) Stalk Region Led to Autonomous IL-23R Homodimerization and Activation.
[So] Source:Mol Cell Biol;37(17), 2017 Sep 01.
[Is] ISSN:1098-5549
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Interleukin 23 (IL-23) regulates the development of TH17 cells, which are important for antimicrobial and antifungal responses and autoimmune and chronic inflammatory diseases. IL-23-induced Jak/STAT signaling is mediated via the heterodimeric IL-23 receptor (IL-23R)-IL-12 receptor ß1 (IL-12Rß1) complex. The typical signal-transducing receptor of the IL-6/IL-12 family contains three extracellular-membrane-proximal fibronectin type III (FNIII) domains, which are not involved in cytokine binding but are mandatory for signal transduction. In place of FNIII-type domains, IL-23R has a structurally undefined stalk. We hypothesized that the IL-23R stalk acts as a spacer to position the cytokine binding domains at a defined distance from the plasma membrane to enable signal transduction. Minor deletions of the murine, but not of the human, IL-23R stalk resulted in unresponsiveness to IL-23. Complete deletion of the human IL-23R stalk and the extended murine IL-23R stalk, including a 20-amino-acid-long duplication of domain 3, however, induced ligand-independent, autonomous receptor activation, as determined by STAT3 phosphorylation and cell proliferation. Ligand-independent, autonomous activity was caused by IL-23R homodimers and was independent of IL-12Rß1. Our data show that deletion of the stalk results in biologically active IL-23R homodimers, thereby creating an as-yet-undescribed receptor complex of the IL-6/IL-12 cytokine family.
[Mh] Termos MeSH primário: Interleucina-23/metabolismo
Multimerização Proteica
Receptores de Interleucina-12/metabolismo
Receptores de Interleucina/genética
Fator de Transcrição STAT3/genética
Deleção de Sequência/genética
[Mh] Termos MeSH secundário: Seres Humanos
Interleucina-12/metabolismo
Interleucina-6/metabolismo
Fosforilação
Fator de Transcrição STAT3/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (IL23R protein, human); 0 (IL6 protein, human); 0 (Interleukin-23); 0 (Interleukin-6); 0 (Receptors, Interleukin); 0 (Receptors, Interleukin-12); 0 (STAT3 Transcription Factor); 187348-17-0 (Interleukin-12)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170927
[Lr] Data última revisão:
170927
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170621
[St] Status:MEDLINE


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[PMID]:28299343
[Au] Autor:Wasik U; Wunsch E; Norman GL; Rigopoulou EI; Bogdanos DP; Milkiewicz P; Milkiewicz M
[Ad] Endereço:Department of Medical Biology, Pomeranian Medical University, Szczecin, Poland.
[Ti] Título:Polymorphisms of IL12RB2 May Affect the Natural History of Primary Biliary Cholangitis: A Single Centre Study.
[So] Source:J Immunol Res;2017:2185083, 2017.
[Is] ISSN:2314-7156
[Cp] País de publicação:Egypt
[La] Idioma:eng
[Ab] Resumo:. Recent GWAS in primary biliary cholangitis (PBC) showed strong associations with SNPs located within interleukin-12 receptor (IL12R) beta-2 gene. . We assessed whether genetic variation of is associated with laboratory and clinical features of PBC. . Genomic DNA was isolated from 306 patients with PBC and 258 age/gender-matched controls. PBC-specific anti-mitochondrial antibodies (AMA) were tested in all subjects by ELISA. Two SNPs, rs3790567 and rs6679356, of were genotyped using the MGB-TaqMan SNP assay. . Despite comparable age at diagnosis of cirrhotic and noncirrhotic PBC patients, allele A of rs3790567 and allele C of rs6679356 were overrepresented in the former rather than the latter group ( = 0.0009 and = 0.002, resp.). The risk of cirrhosis at presentation increased when allele A and allele C coexisted. AMA-M2 titres were significantly higher in AA homozygotes of rs3790567 compared to GG homozygotes (132 ± 54 versus 103 ± 62, = 0.02) and in rs6679356 when C allele was present ( = 0.038). There were no other significant associations between polymorphisms and laboratory or clinical features. . In this first study analyzing phenotypic features of PBC carriers of the polymorphisms, we found that carriers are more frequently cirrhotic at diagnosis and have significantly higher titres of AMA.
[Mh] Termos MeSH primário: Autoanticorpos/sangue
Estudos de Associação Genética
Cirrose Hepática Biliar/genética
Mitocôndrias/imunologia
Polimorfismo de Nucleotídeo Único
Receptores de Interleucina-12/genética
[Mh] Termos MeSH secundário: Adulto
Alelos
DNA
Feminino
Predisposição Genética para Doença
Genótipo
Homozigoto
Seres Humanos
Cirrose Hepática Biliar/diagnóstico
Cirrose Hepática Biliar/imunologia
Masculino
Meia-Idade
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Autoantibodies); 0 (IL12RB2 protein, human); 0 (Receptors, Interleukin-12); 9007-49-2 (DNA)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170406
[Lr] Data última revisão:
170406
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170317
[St] Status:MEDLINE
[do] DOI:10.1155/2017/2185083


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[PMID]:28161409
[Au] Autor:Dadak M; Jacobs R; Skuljec J; Jirmo AC; Yildiz Ö; Donnerstag F; Baerlecken NT; Schmidt RE; Lanfermann H; Skripuletz T; Schwenkenbecher P; Kleinschnitz C; Tumani H; Stangel M; Pul R
[Ad] Endereço:Department of Neuroradiology, Hannover Medical School, Hannover, Germany.
[Ti] Título:Gain-of-function STAT1 mutations are associated with intracranial aneurysms.
[So] Source:Clin Immunol;178:79-85, 2017 May.
[Is] ISSN:1521-7035
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Chronic mucocutaneous candidiasis, characterized by persistent or recurrent fungal infections, represents the clinical hallmark in gain-of-function (GOF) signal transducer and activator of transcription 1 (STAT1) mutation carriers. Several cases of intracranial aneurysms have been reported in patients with GOF STAT1 mutation but the paucity of reported cases likely suggested this association still as serendipity. In order to endorse this association, we link the development of intracranial aneurysms with STAT1 GOF mutation by presenting the two different cases of a patient and her mother, and demonstrate upregulated phosphorylated STAT4 and IL-12 receptor ß1 upon stimulation in patient's blood cells. We also detected increased transforming growth factor (TGF)-ß type 2 receptor expression, particularly in CD14 cells, and a slightly higher phosphorylation rate of SMAD3. In addition, the mother of the patient developed disseminated bacille Calmette-Guérin disease after vaccination, speculating that GOF STAT1 mutations may confer a predisposition to weakly virulent mycobacteria.
[Mh] Termos MeSH primário: Candidíase Mucocutânea Crônica/genética
Aneurisma Intracraniano/genética
Fator de Transcrição STAT1/genética
[Mh] Termos MeSH secundário: Adjuvantes Imunológicos/efeitos adversos
Adulto
Angiografia Digital
Vacina BCG/efeitos adversos
Candidíase Mucocutânea Crônica/complicações
Candidíase Mucocutânea Crônica/imunologia
Candidíase Mucocutânea Crônica/metabolismo
Angiografia Cerebral
Feminino
Seres Humanos
Aneurisma Intracraniano/complicações
Aneurisma Intracraniano/diagnóstico por imagem
Aneurisma Intracraniano/metabolismo
Mães
Mutação
Fosfoproteínas/imunologia
Fosfoproteínas/metabolismo
Proteínas Serina-Treonina Quinases/imunologia
Proteínas Serina-Treonina Quinases/metabolismo
Receptores de Interleucina-12/imunologia
Receptores de Interleucina-12/metabolismo
Receptores de Fatores de Crescimento Transformadores beta/imunologia
Receptores de Fatores de Crescimento Transformadores beta/metabolismo
Fator de Transcrição STAT4/imunologia
Fator de Transcrição STAT4/metabolismo
Proteína Smad3/imunologia
Proteína Smad3/metabolismo
Tuberculose/induzido quimicamente
Tuberculose/imunologia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adjuvants, Immunologic); 0 (BCG Vaccine); 0 (IL12RB1 protein, human); 0 (Phosphoproteins); 0 (Receptors, Interleukin-12); 0 (Receptors, Transforming Growth Factor beta); 0 (SMAD3 protein, human); 0 (STAT1 Transcription Factor); 0 (STAT1 protein, human); 0 (STAT4 Transcription Factor); 0 (STAT4 protein, human); 0 (Smad3 Protein); EC 2.7.11.1 (Protein-Serine-Threonine Kinases); EC 2.7.11.30 (transforming growth factor-beta type II receptor)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170206
[St] Status:MEDLINE


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[PMID]:27873456
[Au] Autor:Parvaneh N; Barlogis V; Alborzi A; Deswarte C; Boisson-Dupuis S; Migaud M; Farnaria C; Markle J; Parvaneh L; Casanova JL; Bustamante J
[Ad] Endereço:Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
[Ti] Título:Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rß1 deficiencies.
[So] Source:Pediatr Blood Cancer;64(6), 2017 Jun.
[Is] ISSN:1545-5017
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations of the IL12B and IL12RB1 genes underlie the development of IL-12 p40 and IL-12Rß1 deficiencies, respectively, both of which cause predisposition to infection with weakly virulent mycobacteria and Salmonella. Infections with other intramacrophagic organisms have only been rarely observed. We identified two patients with visceral leishmaniasis who had autosomal recessive IL-12 p40 and IL-12Rß1 deficiencies, respectively. This finding demonstrates the importance of IFN-γ immunity in the control of leishmaniasis. We also searched the literature for similar reports in patients with these and other primary immunodeficiencies.
[Mh] Termos MeSH primário: Doenças Genéticas Inatas
Síndromes de Imunodeficiência
Subunidade p40 da Interleucina-12/deficiência
Leishmaniose Visceral
Receptores de Interleucina-12/deficiência
[Mh] Termos MeSH secundário: Adolescente
Criança
Feminino
Doenças Genéticas Inatas/genética
Doenças Genéticas Inatas/imunologia
Doenças Genéticas Inatas/patologia
Seres Humanos
Síndromes de Imunodeficiência/genética
Síndromes de Imunodeficiência/imunologia
Síndromes de Imunodeficiência/patologia
Leishmaniose Visceral/genética
Leishmaniose Visceral/imunologia
Leishmaniose Visceral/patologia
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (IL12B protein, human); 0 (IL12RB1 protein, human); 0 (Interleukin-12 Subunit p40); 0 (Receptors, Interleukin-12)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161123
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.26362


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[PMID]:27575691
[Au] Autor:Gu G; Huang Y; Wu C; Guo Z; Ma Y; Xia Q; Awasthi A; He X
[Ad] Endereço:1 Department of Liver Surgery, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China. 2 Organ Transplant Center, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China. 3 Traditional Chinese Medicine Center, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China. 4 Translational Health Science & Technology Institute, Faridabad, India.
[Ti] Título:Differential Expression of Long Noncoding RNAs During Cardiac Allograft Rejection.
[So] Source:Transplantation;101(1):83-91, 2017 Jan.
[Is] ISSN:1534-6080
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Organ transplantation is the most effective treatment for end-stage diseases. Although transplant rejection is the major restriction in successful long-lasting graft survival, induction of sustainable immune tolerance against transplant is one of the major goals in transplantation to enable long-term graft survival. Although various mechanisms have been suggested that induce immune tolerance during transplantation, the roles of long noncoding RNAs (lncRNAs), which modulate gene expression and regulate innate and adaptive immune responses, are not clearly understood in transplantation. Here, we described the role of 2 essential lncRNAs, lncRNA-A930015D03Rik and mouselincRNA1055, in regulating T helper 1 (Th1) response in graft rejection. METHODS: To understand the gene expression and lncRNA profile during transplantation, we performed microarray to profile lncRNA and messenger (m)RNA of the heart graft and graft-infiltrating lymphocytes (GILs) in allogeneic and syngeneic mouse heart transplantation model. We screened the differentially expressed lncRNAs and mRNAs, and generated the network of lncRNA-mRNA coexpression and computationally predicted their association in transplantation. We further validated the selected T cell related lncRNAs by qPCR, which we identified in gene set enrichment analysis. The functional validation of these lncRNAs in the regulation of Th1 response in transplantation was performed by short hairpin RNA-mediated inhibition. RESULTS: We established a profile of lncRNA and mRNA, which are differentially expressed during transplant rejection in mouse model of heart transplant. Consistent with the microarray results, we have confirmed and validated the expression of 7 lncRNA by qPCR. The lncRNA-A930015D03Rik and mouselincRNA1055 were highly expressed in allogeneic heart graft and GILs. We further identified that expression of IL-12Rß1 is strongly correlated with lncRNA-A930015D03Rik and mouselincRNA1055 in GILs. Further analysis revealed the association of lncRNA-A930015D03Rik and mouselincRNA1055 with Th1 cells in graft rejection. The functions of lncRNA-A930015D03Rik and mouselincRNA1055 were validated in differentiation of Th1 cells by knocking down their expression. Inhibition of lncRNA-A930015D03Rik and mouselincRNA1055 substantially suppressed the expression of IL-12Rß1 and IFN-γ induction in Th1 cells. CONCLUSIONS: Our results provide a detailed profile of lncRNAs that may regulate immune response and graft outcomes. Our data not only suggest the involvement of lncRNA-A930015D03Rik and mouselincRNA1055 in the regulation of Th1 cells response during graft rejection but also identify them as novel biomarkers for subclinical graft rejection.
[Mh] Termos MeSH primário: Rejeição de Enxerto/genética
Transplante de Coração/efeitos adversos
Miocárdio/metabolismo
RNA Longo não Codificante/genética
[Mh] Termos MeSH secundário: Aloenxertos
Animais
Células Cultivadas
Modelos Animais de Doenças
Feminino
Perfilação da Expressão Gênica/métodos
Regulação da Expressão Gênica
Redes Reguladoras de Genes
Marcadores Genéticos
Rejeição de Enxerto/imunologia
Rejeição de Enxerto/metabolismo
Interferon gama/genética
Interferon gama/imunologia
Interferon gama/metabolismo
Teste de Cultura Mista de Linfócitos
Camundongos Endogâmicos BALB C
Camundongos Endogâmicos C57BL
Miocárdio/imunologia
Análise de Sequência com Séries de Oligonucleotídeos
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Reação em Cadeia da Polimerase em Tempo Real
Receptores de Interleucina-12/genética
Receptores de Interleucina-12/imunologia
Receptores de Interleucina-12/metabolismo
Células Th1/imunologia
Células Th1/metabolismo
Fatores de Tempo
Transfecção
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Genetic Markers); 0 (Il12rb1 protein, mouse); 0 (RNA, Long Noncoding); 0 (RNA, Messenger); 0 (Receptors, Interleukin-12); 82115-62-6 (Interferon-gamma)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170523
[Lr] Data última revisão:
170523
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160831
[St] Status:MEDLINE
[do] DOI:10.1097/TP.0000000000001463


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[PMID]:27464962
[Au] Autor:Yu H; Zheng M; Zhang L; Li H; Zhu Y; Cheng L; Li L; Deng B; Kijlstra A; Yang P
[Ad] Endereço:The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China.
[Ti] Título:Identification of susceptibility SNPs in IL10 and IL23R-IL12RB2 for Behçet's disease in Han Chinese.
[So] Source:J Allergy Clin Immunol;139(2):621-627, 2017 Feb.
[Is] ISSN:1097-6825
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Although previous genome-wide association studies in various cohorts have identified several susceptibility loci underlying Behçet's disease (BD), this has not yet led to a breakthrough in the management of BD. OBJECTIVE: This study aimed to further investigate the association of 26 candidate single nucleotide polymorphisms with previous genome-wide association studies-identified nearly positive P values (5.0 × 10 < P < 1.0 × 10 ) in Chinese Han patients with BD. METHODS: A case-control association study was performed in 1206 patients with BD and 2475 healthy controls. Genotyping was performed using iPLEX Gold genotyping assay. Gene expression and cytokine production was quantified by real-time PCR and ELISA. RESULTS: The results showed that significantly higher frequencies of the IL23R-IL12RB2/rs924080 TT genotype (P = 2.03 × 10 ; odds ratio [OR] = 1.50), IL23R-IL12RB2/rs12141431 CC genotype (P = 2.18 × 10 ; OR = 1.53), IL10/rs1800871 TT genotype (P = 5.88 × 10 ; OR = 1.47), and IL10/rs3024490 TT genotype (P = 2.80 × 10 ; OR = 1.34) were found in BD. Functional experiments showed an increased IL23R expression and IL-17 production in rs12141431/CC genotype carriers compared with GG genotype carriers. A decreased IL10 expression and IL-10 production was observed in rs3024490/TT genotype carriers as compared with GG genotype carriers. CONCLUSIONS: Our findings not only confirmed the association of IL10/rs1800871 and IL23R-IL12RB2/rs924080 with BD but also identified 2 susceptibility single nucleotide polymorphisms in IL10 and IL23R-IL12RB2 (rs3024490 and rs12141431) with BD in Han Chinese.
[Mh] Termos MeSH primário: Síndrome de Behçet/genética
Interleucina-10/genética
Receptores de Interleucina-12/genética
Receptores de Interleucina/genética
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
China
Citocinas/genética
Citocinas/metabolismo
Feminino
Frequência do Gene
Estudos de Associação Genética
Predisposição Genética para Doença
Estudo de Associação Genômica Ampla
Genótipo
Seres Humanos
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cytokines); 0 (IL12RB2 protein, human); 0 (IL23R protein, human); 0 (Receptors, Interleukin); 0 (Receptors, Interleukin-12); 130068-27-8 (Interleukin-10)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170803
[Lr] Data última revisão:
170803
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160729
[St] Status:MEDLINE


  9 / 666 MEDLINE  
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Fotocópia
[PMID]:28276206
[Au] Autor:Tan Ç; Çagdas-Ayvaz D; Metin A; Keskin Ö; Tezcan I; Sanal Ö
[Ad] Endereço:Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
[Ti] Título:Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.
[So] Source:Turk J Pediatr;58(4):356-361, 2016.
[Is] ISSN:0041-4301
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by infections with weakly virulent mycobacteria (BCG and environmental mycobacteria), M. tuberculosis, Salmonella, candida and some other intracellular microorganisms. Nine different genetic defects have been defined to cause MSMD and IL-12Rß1 deficiency is the most common form. We present here the clinical and genetic features of 18 patients with IL12Rß1 deficiency diagnosed by surface expression of IL-12Rß1 and Sanger's sequencing. Seventeen patients showed classical presentation (infections with BCG, salmonella and candida) while one patient experienced recurrent leishmaniasis. In all patients the percentage of activated lymphocytes with surface expression of IL12Rß1 was < 1% indicating that it is an effective method for the screening of these patients. Three recurrent mutations were responsible for 85% of our families. Prognosis was good in patients, in whom specific antimicrobial therapy was given before dissemination occurs, as well as prophylactic antimicrobial treatment when needed and IFN-γ therapy for severe infectious episodes.
[Mh] Termos MeSH primário: Mycobacterium tuberculosis/imunologia
Receptores de Interleucina-12/genética
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Feminino
Predisposição Genética para Doença
Seres Humanos
Masculino
Mutação
Receptores de Interleucina-12/deficiência
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (IL12RB1 protein, human); 0 (Receptors, Interleukin-12)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170705
[Lr] Data última revisão:
170705
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170310
[St] Status:MEDLINE


  10 / 666 MEDLINE  
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Fotocópia
[PMID]:28266204
[Au] Autor:Göktürk B; Reisli I; Çaliskan Ü; Oleaga-Quintas C; Deswarte C; Turul-Özgür T; Burgucu D; Migaud M; Casanova JL; Picard C; Bustamante J
[Ad] Endereço:Division of Pediatric Allergy and Immunology, Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey.
[Ti] Título:Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.
[So] Source:Turk J Pediatr;58(3):331-336, 2016.
[Is] ISSN:0041-4301
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:Clinical disease caused by weakly pathogenic mycobacterial species, which is known as Mendelian susceptibility to mycobacterial disease (MSMD), is a rare entity. IFN-γ and IL-17 production are defective due to insufficient response to IL-2 and IL-23 in IL-12Rß1 deficiency; so this also causes tendency to intracellular microorganisms and candidal diseases. Here, we present a patient who suffers IL-12Rß1 deficiency caused by a novel bi-allelic mutation with recurrent salmonellosis, mycobacterial, fungal infections and remained asymptomatic during 13 months of follow-up after hIFN-γ treatment. In addition she had hemolytic anemia and midline defects like cleft lip and palate which have not been reported in a patient with MSMD in the literature prior to this case report. In conclusion, diagnosis of MSMD should be kept in mind in patients with recurrent salmonellosis, mycobacterial and fungal infections especially in countries with a high consanguinity rate.
[Mh] Termos MeSH primário: Autoimunidade/genética
Fissura Palatina/complicações
Doenças Transmissíveis/genética
Receptores de Interleucina-12/genética
[Mh] Termos MeSH secundário: Alelos
Pré-Escolar
Doenças Transmissíveis/complicações
Feminino
Seres Humanos
Mutação
Receptores de Interleucina-12/deficiência
Síndrome
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (IL12RB1 protein, human); 0 (Receptors, Interleukin-12)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170626
[Lr] Data última revisão:
170626
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170308
[St] Status:MEDLINE



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