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Pesquisa : D12.644.360.024.332 [Categoria DeCS]
Referências encontradas : 321 [refinar]
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[PMID]:28904129
[Au] Autor:Radomir L; Cohen S; Kramer MP; Bakos E; Lewinsky H; Barak A; Porat Z; Bucala R; Stepensky P; Becker-Herman S; Shachar I
[Ad] Endereço:Department of Immunology, Weizmann Institute of Science, Rehovot 76100, Israel.
[Ti] Título:T Cells Regulate Peripheral Naive Mature B Cell Survival by Cell-Cell Contact Mediated through SLAMF6 and SAP.
[So] Source:J Immunol;199(8):2745-2757, 2017 Oct 15.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The control of lymphoid homeostasis is the result of a very fine balance between lymphocyte production, proliferation, and apoptosis. In this study, we focused on the role of T cells in the maintenance/survival of the mature naive peripheral B cell population. We show that naive B and T cells interact via the signaling lymphocyte activation molecule (SLAM) family receptor, SLAMF6. This interaction induces cell type-specific signals in both cell types, mediated by the SLAM-associated protein (SAP) family of adaptors. This signaling results in an upregulation of the expression of the cytokine migration inhibitory factor in the T cells and augmented expression of its receptor CD74 on the B cell counterparts, consequently enhancing B cell survival. Furthermore, in X-linked lymphoproliferative disease patients, SAP deficiency reduces CD74 expression, resulting in the perturbation of B cell maintenance from the naive stage. Thus, naive T cells regulate B cell survival in a SLAMF6- and SAP-dependent manner.
[Mh] Termos MeSH primário: Subpopulações de Linfócitos B/fisiologia
Linfócitos B/fisiologia
Células Sanguíneas/fisiologia
Transtornos Linfoproliferativos/imunologia
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/metabolismo
Família de Moléculas de Sinalização da Ativação Linfocitária/metabolismo
Linfócitos T/fisiologia
[Mh] Termos MeSH secundário: Animais
Anticorpos Bloqueadores/administração & dosagem
Comunicação Celular
Diferenciação Celular
Proliferação Celular
Sobrevivência Celular
Células Cultivadas
Homeostase
Seres Humanos
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
RNA Interferente Pequeno/genética
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/genética
Família de Moléculas de Sinalização da Ativação Linfocitária/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Blocking); 0 (RNA, Small Interfering); 0 (Signaling Lymphocytic Activation Molecule Associated Protein); 0 (Signaling Lymphocytic Activation Molecule Family); 0 (Slamf6 protein, mouse)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170915
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1700557


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[PMID]:28816794
[Au] Autor:de la Varga-Martínez R; Mora-López F; García-Cuesta D; Garrastazul-Sánchez MP; Quintero S; Rodríguez C; Sampalo A
[Ad] Endereço:*Department of Immunology, Hematology and Immunology Unit. Hospital Universitario Puerta del Mar (HUPM) †Department of Hematology, Hematology and Immunology Unit. HUPM ‡Pediatric Intensive Care Department, Pediatrics Unit. HUPM. Cádiz, Spain.
[Ti] Título:X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis.
[So] Source:J Pediatr Hematol Oncol;39(8):e483-e485, 2017 Nov.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hemophagocytic lymphohistiocytosis is characterized by uncontrolled activation of the immune system that leads to systemic hyperinflammation. Lymphoproliferative syndrome linked to the X chromosome is a hereditary immunodeficiency characterized by an inability to mount an adequate immune response to an Epstein-Barr virus infection. Hemophagocytic lymphohistiocytosis is one of the main clinical features of X-linked lymphoproliferative syndrome. We report the case of a patient who presented with primary hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection without a familial history of immunodeficiency. A mutation in the SH2D1A gene was identified, which confirmed the diagnosis of type 1 X-linked lymphoproliferative syndrome.
[Mh] Termos MeSH primário: Linfo-Histiocitose Hemofagocítica/diagnóstico
Linfo-Histiocitose Hemofagocítica/etiologia
Transtornos Linfoproliferativos/diagnóstico
Transtornos Linfoproliferativos/etiologia
Mutação
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/genética
[Mh] Termos MeSH secundário: Substituição de Aminoácidos
Biomarcadores
Biópsia
Criança
Códon
Análise Mutacional de DNA
Infecções por Vírus Epstein-Barr/complicações
Herpesvirus Humano 4
Seres Humanos
Imunofenotipagem
Masculino
Imagem Multimodal
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Codon); 0 (Signaling Lymphocytic Activation Molecule Associated Protein)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170818
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000938


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[PMID]:28482391
[Au] Autor:Li WY; Chen JS; Zhao Q; Dai RX; Wang YP; Zhao HY; Chen XM; Xue XH; Sun XY; Tang XM; Zhang Y; Ding Y; Zhao XD; Zhang ZY
[Ad] Endereço:Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders. Chongqing Key Laboratory of Child Infection and Immunity, Chongqing 400014, China.
[Ti] Título:[Two families of X-linked lymphoproliferative disease type 1 characterized by agammaglobulinemia].
[So] Source:Zhonghua Er Ke Za Zhi;55(5):377-382, 2017 May 04.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To investigate the clinical and immunological laboratory features, mutations in SH2D1A gene and SAP protein expression in four children of two families with X-linked lymphoproliferative disease type 1(XLP-1). Four patients (Family A including Patient 1 and Patient 2, Family B including Patient 3 and Patient 4) and their maternal relatives were enrolled in this study. The clinical manifestation, EBV infection status and chest CT scan were analyzed. The absolute and relative numbers of lymphocyte subsets, T lymphocyte proliferative response, SAP protein expression were assessed by flow cytometry. Quantification of signal joint TCR rearrangementexcision circle (sjTRECs), CDR3 spectratyping of TCRvß and gene mutation of SH2D1A were detected by PCR based on genomic DNA or cDNA. Four male patients from two families were diagnosed with XLP-1. The ages of disease onset were more than 1 year, more than 1 year, more than 1 month and 6 months. The ages at diagnosis were nine years and ten months, sixteen years and eight months, fourteen years and ten months, four years and nine months. All patients had recurrent infections and EBV infection. Patients 1, 2, and 3 had agammaglobulinemia and Patient 4 had hypogammaglobulinemia. Chest CT scan showed all patients had atelectasis and pneumonia, and Patient 3 had bronchiectasis. Patient 3 was diagnosised as Burkitt lymphoma. For immunological function, all patients exhibited reduced CD4/CD8 ratios, increased numbers of exhausted T lymphocyte, decreased number of NK cell. The numbers of total B lymphocyte and naïve B lymphocyte were normal, but the number of memory B lymphocyte declined in all cases. Four patients' copy numbers of sjTRECs were low and CDR3 spectratypings of TCRvß showed mildly skewed. But their T lymphocyte proliferative response was normal. SAP protein expression in four cases were measured by flow cytometry. Two patients from Family A were absent and two patients from Family B showed decreased values. SH2D1A gene sequence analysis showed that the patients of Family A harbored a nonsense mutation (c.163 C>T; p.R55X) in exon 2. Their mother and two sisters were carriers. A missense mutation of SH2D1A gene (c.278 G>A; p.G93D) in exon 3 was found in the patients of Family B. The mother was carrier. Four patients remain survived, Patient 3 gave up treatment, other three patients received IVIG therapy. Four patients with XLP-1 from two families characterized by agammaglobulinemia have an extreme vulnerability to Epstein-Barr virus (EBV) infection. The functions of T cell, B cell and NK cell are impaired at different stages. The detection of SAP protein and SH2D1A gene are the key methods for diagnosis of XLP-1.
[Mh] Termos MeSH primário: Agamaglobulinemia/etiologia
Infecções por Vírus Epstein-Barr
Transtornos Linfoproliferativos/complicações
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/genética
[Mh] Termos MeSH secundário: Éxons
Citometria de Fluxo
Herpesvirus Humano 4
Seres Humanos
Lactente
Peptídeos e Proteínas de Sinalização Intracelular
Transtornos Linfoproliferativos/genética
Masculino
Mutação
Mutação de Sentido Incorreto
Pneumonia
Linfócitos T
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Intracellular Signaling Peptides and Proteins); 0 (SH2D1A protein, human); 0 (Signaling Lymphocytic Activation Molecule Associated Protein)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170509
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1310.2017.05.014


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[PMID]:28387859
[Au] Autor:Stratigou V; Doyle AF; Carlucci F; Stephens L; Foschi V; Castelli M; McKenna N; Cook HT; Lightstone L; Cairns TD; Pickering MC; Botto M
[Ad] Endereço:Department of Medicine, Imperial College London, Centre for Complement and Inflammation Research.
[Ti] Título:Altered expression of signalling lymphocyte activation molecule receptors in T-cells from lupus nephritis patients-a potential biomarker of disease activity.
[So] Source:Rheumatology (Oxford);56(7):1206-1216, 2017 Jul 01.
[Is] ISSN:1462-0332
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Objectives: The aim was to investigate whether the signalling lymphocyte activation molecule (SLAM) signalling pathways contribute to LN and whether SLAM receptors could be valuable biomarkers of disease activity. Methods: Peripheral blood mononuclear cells from 30National Research Ethics Service SLE patients with biopsy-proven LN were analysed by flow cytometry. Clinical measures of disease activity were assessed. The expression of the SLAM family receptors on T-cell subpopulations [CD4, CD8 and double negative (DN) T cells] was measured and compared between lupus patients with active renal disease and those in remission. Results: The frequency of CD8 T cells expressing SLAMF3, SLAMF5 and SLAMF7 was significantly lower in LN patients who were in remission. In contrast, these subsets were similar in patients with active renal disease and in healthy individuals. Patients with active nephritis had an increased percentage of circulating monocytes, consistent with a potential role played by these cells in glomerular inflammation. Changes in the frequency of DN T cells positive for SLAMF2, SLAMF4 and SLAMF7 were observed in lupus patients irrespective of the disease activity. We detected alterations in the cellular expression of the SLAM family receptors, but these changes were less obvious and did not reveal any specific pattern. The percentage of DN T cells expressing SLAMF6 could predict the clinical response to B-cell depletion in patients with LN. Conclusion: Our study demonstrates altered expression of the SLAM family receptors in SLE T lymphocytes. This is consistent with the importance of the SLAM-associated pathways in lupus pathogenesis.
[Mh] Termos MeSH primário: Linfócitos T CD4-Positivos/imunologia
Nefrite Lúpica/tratamento farmacológico
Nefrite Lúpica/imunologia
Rituximab/uso terapêutico
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/metabolismo
[Mh] Termos MeSH secundário: Adulto
Antígenos CD/metabolismo
Linfócitos B/efeitos dos fármacos
Linfócitos B/imunologia
Biomarcadores/metabolismo
Biópsia por Agulha
Linfócitos T CD4-Positivos/metabolismo
Linfócitos T CD8-Positivos/metabolismo
Estudos de Coortes
Progressão da Doença
Feminino
Seres Humanos
Imuno-Histoquímica
Infusões Intravenosas
Leucócitos Mononucleares/metabolismo
Nefrite Lúpica/patologia
Ativação Linfocitária/imunologia
Masculino
Meia-Idade
Valor Preditivo dos Testes
Medição de Risco
Índice de Gravidade de Doença
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/imunologia
Estatísticas não Paramétricas
Resultado do Tratamento
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD); 0 (Biomarkers); 0 (Signaling Lymphocytic Activation Molecule Associated Protein); 4F4X42SYQ6 (Rituximab)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170408
[St] Status:MEDLINE
[do] DOI:10.1093/rheumatology/kex078


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[PMID]:28386908
[Au] Autor:Meazza R; Falco M; Marcenaro S; Loiacono F; Canevali P; Bellora F; Tuberosa C; Locatelli F; Micalizzi C; Moretta A; Mingari MC; Moretta L; Aricò M; Bottino C; Pende D
[Ad] Endereço:Dipartimento delle Terapie Oncologiche Integrate, IRCCS AOU San Martino-IST, Genoa, Italy.
[Ti] Título:Inhibitory 2B4 contributes to NK cell education and immunological derangements in XLP1 patients.
[So] Source:Eur J Immunol;47(6):1051-1061, 2017 Jun.
[Is] ISSN:1521-4141
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:X-linked lymphoproliferative disease 1 (XLP1) is an inherited immunodeficiency, caused by mutations in SH2D1A encoding Signaling Lymphocyte Activation Molecule (SLAM)-associated protein (SAP). In XLP1, 2B4, upon engagement with CD48, has inhibitory instead of activating function. This causes a selective inability of cytotoxic effectors to kill EBV-infected cells, with dramatic clinical sequelae. Here, we investigated the NK cell education in XLP1, upon characterization of killer Ig-like receptor (KIR)/KIR-L genotype and phenotypic repertoire of self-HLA class I specific inhibitory NK receptors (self-iNKRs). We also analyzed NK-cell cytotoxicity against CD48 or CD48 KIR-ligand matched or autologous hematopoietic cells in XLP1 patients and healthy controls. XLP1 NK cells may show a defective phenotypic repertoire with substantial proportion of cells lacking self-iNKR. These NK cells are cytotoxic and the inhibitory 2B4/CD48 pathway plays a major role to prevent killing of CD48 EBV-transformed B cells and M1 macrophages. Importantly, self-iNKR defective NK cells kill CD48 targets, such as mature DCs. Self-iNKR NK cells in XLP1 patients are functional even in resting conditions, suggesting a role of the inhibitory 2B4/CD48 pathway in the education process during NK-cell maturation. Killing of autologous mature DC by self-iNKR defective XLP1 NK cells may impair adaptive responses, further exacerbating the patients' immune defect.
[Mh] Termos MeSH primário: Células Matadoras Naturais/imunologia
Transtornos Linfoproliferativos/imunologia
Transtornos Linfoproliferativos/fisiopatologia
Receptores de Células Matadoras Naturais/imunologia
Família de Moléculas de Sinalização da Ativação Linfocitária/metabolismo
[Mh] Termos MeSH secundário: Antígeno CD48/imunologia
Antígeno CD48/metabolismo
Genes MHC Classe I
Seres Humanos
Células Matadoras Naturais/metabolismo
Ativação Linfocitária
Canais de Potássio Corretores do Fluxo de Internalização/imunologia
Receptores Imunológicos/metabolismo
Transdução de Sinais
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/metabolismo
Família de Moléculas de Sinalização da Ativação Linfocitária/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CD244 protein, human); 0 (CD48 Antigen); 0 (CD48 protein, human); 0 (Kcnj10 (channel)); 0 (Potassium Channels, Inwardly Rectifying); 0 (Receptors, Immunologic); 0 (Receptors, Natural Killer Cell); 0 (Signaling Lymphocytic Activation Molecule Associated Protein); 0 (Signaling Lymphocytic Activation Molecule Family)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170408
[St] Status:MEDLINE
[do] DOI:10.1002/eji.201646885


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[PMID]:28267077
[Au] Autor:Sharapova SO; Fedorova AS; Pashchenko OE; Vahliarskaya SS; Guryanova IE; Migas AA; Kondratenko IV; Aleinikova OV
[Ad] Endereço:*Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus †Department of Clinical Immunology, Russian Clinical Children's Hospital, Moscow, Russia.
[Ti] Título:Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma.
[So] Source:J Pediatr Hematol Oncol;39(4):e203-e206, 2017 May.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: X-linked lymphoproliferative disease type I (XLP I) is caused by mutations in the SH2D1A gene and characterized mainly by hypogammaglobulinemia and abnormal response to Epstein-Barr virus with a high predisposition to B-cell non-Hodgkin lymphoma development. OBSERVATIONS: In this article, we describe the experience of 2 centers in Belarus and in Russia that follow 3 male patients who were diagnosed with XLP I after lymphoma development and treatment. Three novel mutations c.51G>C (p.E17D), c.192G>T (p.W64C), and c.53insA (p.K18KfsX67) were found in 3 males patients with XLP I. Two of them did not have any signs of immunodeficiency before B-cell non-Hodgkin lymphoma development. CONCLUSIONS: We propose SH2D1A mutational screening be considered in male patients with or without hypogammaglobulinemia who received rituximab treatment for lymphoma and did not recover immunoglobulin G in a year after B-depleting therapy.
[Mh] Termos MeSH primário: Linfoma não Hodgkin/complicações
Transtornos Linfoproliferativos/complicações
Transtornos Linfoproliferativos/genética
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/genética
[Mh] Termos MeSH secundário: Agamaglobulinemia
Criança
Seres Humanos
Imunoglobulina G/sangue
Linfoma não Hodgkin/tratamento farmacológico
Transtornos Linfoproliferativos/diagnóstico
Masculino
Mutação
Rituximab/uso terapêutico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Immunoglobulin G); 0 (SH2D1A protein, human); 0 (Signaling Lymphocytic Activation Molecule Associated Protein); 4F4X42SYQ6 (Rituximab)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170308
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000815


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[PMID]:28231257
[Au] Autor:Zhang JY; Chen SC; Chen YY; Li SY; Zhang LL; Shen YH; Chang CX; Xiang YQ; Huang HF; Xu CM
[Ad] Endereço:The International Peace Maternity & Child Health Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, P. R. China.
[Ti] Título:Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.
[So] Source:PLoS One;12(2):e0172173, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family. Next-generation sequencing (NGS)-based multigene panel was used in carrier screening of the pregnant woman. Variants of immunodeficiency related genes were analyzed and prioritized. Candidate variant was verified by using Sanger sequencing. The possible influence of the identified variant was evaluated through RNA assay. Amniocentesis, karyotyping, and Sanger sequencing were performed for prenatal testing. We identified a novel de novo frameshift SH2D1A pathogenic variant (c.251_255delTTTCA) in the pregnant carrier. Peripheral blood RNA assay indicated that the mutant transcript could escape nonsense-mediated mRNA decay (NMD) and might encode a C-terminal truncated protein. Information of the variant led to success prenatal diagnosis of the fetus. In conclusion, our study clarified the genetic diagnosis and altered disease prevention for a pregnant carrier of XLP1.
[Mh] Termos MeSH primário: Mutação da Fase de Leitura
Transtornos Linfoproliferativos/genética
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Testes Genéticos
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Mutação
Degradação do RNAm Mediada por Códon sem Sentido
Linhagem
Gravidez
Diagnóstico Pré-Natal
RNA Mensageiro/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA, Messenger); 0 (SH2D1A protein, human); 0 (Signaling Lymphocytic Activation Molecule Associated Protein)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170224
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0172173


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[PMID]:28196537
[Au] Autor:Zhou S; Ma H; Gao B; Fang G; Zeng Y; Zhang Q; Qi G
[Ad] Endereço:Henan Research Institute for Population and Family Planning, Zhengzhou, China.
[Ti] Título:Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH.
[So] Source:BMC Med Genet;18(1):15, 2017 Feb 14.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hemophagocytic lymphohistocytosis (HLH) is a rare but fatal hyperinflammatory syndrome caused by uncontrolled proliferation of activated macrophages and T lymphocytes secreting high amounts of inflammatory cytokines. Genetic defect is a common cause of HLH. HLH is complicated to be diagnosed as there are many common symptoms with other disorders. CASE PRESENTATION: Here we report on an HLH case caused by 1 bp deletion in gene SH2D1A. Patient was a 3-years-old boy and had fever for more than 8 days. Splenomegaly and hemophagocytosis in bone marrow were observed in examination. The results of the blood analysis suggested the diagnosis of HLH. Genetic test based on high throughput amplicon sequencing was then conducted by targeting all six known HLH-causing genes simultaneously. It took only one single day to accomplish the amplicon sequencing library preparation, sequencing and data analysis. Finally, a novel 1 bp deletion in gene SH2D1A was discovered. The result was also confirmed by Sanger sequencing. The result of the genetic test served as a good basis for further diagnosis of HLH. CONCLUSION: This is the first case that the disease-causing genetic defect of HLH was quickly determined by high throughput amplicon sequencing. This diagnosis was also confirmed by Sanger sequencing and cross-validated by blood analysis and other clinical criteria. This case suggests that genetic test based on amplicon sequencing is a powerful tool for diagnosis of HLH and other diseases caused by genetic defect.
[Mh] Termos MeSH primário: Linfo-Histiocitose Hemofagocítica/genética
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Medula Óssea/patologia
Pré-Escolar
DNA/química
DNA/isolamento & purificação
DNA/metabolismo
Éxons
Deleção de Genes
Testes Genéticos
Seres Humanos
Linfo-Histiocitose Hemofagocítica/diagnóstico
Masculino
Análise de Sequência de DNA
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (SH2D1A protein, human); 0 (Signaling Lymphocytic Activation Molecule Associated Protein); 9007-49-2 (DNA)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170216
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0376-9


  9 / 321 MEDLINE  
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[PMID]:28108590
[Au] Autor:Tangye SG; Palendira U; Edwards ES
[Ad] Endereço:Immunology Division, Garvan Institute of Medical Research, Darlinghurst 2010, NSW, Australia s.tangye@garvan.org.au.
[Ti] Título:Human immunity against EBV-lessons from the clinic.
[So] Source:J Exp Med;214(2):269-283, 2017 Feb.
[Is] ISSN:1540-9538
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The mammalian immune system has evolved over many millennia to be best equipped to protect the host from pathogen infection. In many cases, host and pathogen have coevolved, each acquiring sophisticated ways of inducing or protecting from disease. Epstein-Barr virus (EBV) is a human herpes virus that infects >90% of individuals. Despite its ubiquity, infection by EBV is often subclinical; this invariably reflects the necessity of the virus to preserve its host, balanced with sophisticated host immune mechanisms that maintain viral latency. However, EBV infection can result in various, and often fatal, clinical sequelae, including fulminant infectious mononucleosis, hemophagocytic lymphohistiocytosis, lymphoproliferative disease, organomegaly, and/or malignancy. Such clinical outcomes are typically observed in immunosuppressed individuals, with the most extreme cases being Mendelian primary immunodeficiencies (PIDs). Although these conditions are rare, they have provided critical insight into the cellular, biochemical, and molecular requirements for robust and long-lasting immunity against EBV infection. Here, we review the virology of EBV, mechanisms underlying disease pathogenesis in PIDs, and developments in immune cell-mediated therapy to treat disorders associated with or induced by EBV infection.
[Mh] Termos MeSH primário: Herpesvirus Humano 4/imunologia
[Mh] Termos MeSH secundário: Imunidade Adaptativa
Animais
Ligante CD27/fisiologia
Linfócitos T CD4-Positivos/imunologia
Seres Humanos
Síndromes de Imunodeficiência/etiologia
Imunoterapia Adotiva
Células Matadoras Naturais/imunologia
Transtornos Linfoproliferativos/genética
Transdução de Sinais
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/genética
Membro 7 da Superfamília de Receptores de Fatores de Necrose Tumoral/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (CD27 Ligand); 0 (Signaling Lymphocytic Activation Molecule Associated Protein); 0 (Tumor Necrosis Factor Receptor Superfamily, Member 7)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170122
[St] Status:MEDLINE
[do] DOI:10.1084/jem.20161846


  10 / 321 MEDLINE  
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[PMID]:28049627
[Au] Autor:Chen S; Cai C; Li Z; Liu G; Wang Y; Blonska M; Li D; Du J; Lin X; Yang M; Dong Z
[Ad] Endereço:Institute for Immunology and School of Medicine, Tsinghua University, Beijing 100086, China.
[Ti] Título:Dissection of SAP-dependent and SAP-independent SLAM family signaling in NKT cell development and humoral immunity.
[So] Source:J Exp Med;214(2):475-489, 2017 Feb.
[Is] ISSN:1540-9538
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Signaling lymphocytic activation molecule (SLAM)-associated protein (SAP) mutations in X-linked lymphoproliferative disease (XLP) lead to defective NKT cell development and impaired humoral immunity. Because of the redundancy of SLAM family receptors (SFRs) and the complexity of SAP actions, how SFRs and SAP mediate these processes remains elusive. Here, we examined NKT cell development and humoral immunity in mice completely deficient in SFR. We found that SFR deficiency severely impaired NKT cell development. In contrast to SAP deficiency, SFR deficiency caused no apparent defect in follicular helper T (T ) cell differentiation. Intriguingly, the deletion of SFRs completely rescued the severe defect in T cell generation caused by SAP deficiency, whereas SFR deletion had a minimal effect on the defective NKT cell development in SAP-deficient mice. These findings suggest that SAP-dependent activating SFR signaling is essential for NKT cell selection; however, SFR signaling is inhibitory in SAP-deficient T cells. Thus, our current study revises our understanding of the mechanisms underlying T cell defects in patients with XLP.
[Mh] Termos MeSH primário: Células T Matadoras Naturais/fisiologia
Transdução de Sinais/fisiologia
Membro 1 da Família de Moléculas de Sinalização da Ativação Linfocitária/fisiologia
Família de Moléculas de Sinalização da Ativação Linfocitária/fisiologia
[Mh] Termos MeSH secundário: Animais
Antígenos Ly/fisiologia
Proteínas Adaptadoras de Sinalização CARD/fisiologia
Imunidade Humoral
Fatores de Transcrição Kruppel-Like/biossíntese
Transtornos Linfoproliferativos/genética
Camundongos
Fosfatidilinositol-3,4,5-Trifosfato 5-Fosfatases/fisiologia
Proteína com Dedos de Zinco da Leucemia Promielocítica
Proteína Associada à Molécula de Sinalização da Ativação Linfocitária/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, Ly); 0 (CARD Signaling Adaptor Proteins); 0 (Card11 protein, mouse); 0 (Kruppel-Like Transcription Factors); 0 (Ly108 protein, mouse); 0 (Promyelocytic Leukemia Zinc Finger Protein); 0 (Signaling Lymphocytic Activation Molecule Associated Protein); 0 (Signaling Lymphocytic Activation Molecule Family); 0 (Slamf1 protein, mouse); 0 (Zbtb16 protein, mouse); 169535-43-7 (Signaling Lymphocytic Activation Molecule Family Member 1); EC 3.1.3.86 (Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170105
[St] Status:MEDLINE
[do] DOI:10.1084/jem.20161312



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