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[PMID]:29187589
[Au] Autor:Majri SS; Fritz JM; Villarino AV; Zheng L; Kanellopoulou C; Chaigne-Delalande B; Grönholm J; Niemela JE; Afzali B; Biancalana M; Pittaluga S; Sun A; Cohen JL; Holland SM; O'Shea JJ; Uzel G; Lenardo MJ
[Ad] Endereço:Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.
[Ti] Título:STAT5B: A Differential Regulator of the Life and Death of CD4 Effector Memory T Cells.
[So] Source:J Immunol;200(1):110-118, 2018 01 01.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Understanding the control of Ag restimulation-induced T cell death (RICD), especially in cancer immunotherapy, where highly proliferating T cells will encounter potentially large amounts of tumor Ags, is important now more than ever. It has been known that growth cytokines make T cells susceptible to RICD, but the precise molecular mediators that govern this in T cell subsets is unknown until now. STAT proteins are a family of transcription factors that regulate gene expression programs underlying key immunological processes. In particular, STAT5 is known to favor the generation and survival of memory T cells. In this study, we report an unexpected role for STAT5 signaling in the death of effector memory T (TEM) cells in mice and humans. TEM cell death was prevented with neutralizing anti-IL-2 Ab or STAT5/JAK3 inhibitors, indicating that STAT5 signaling drives RICD in TEM cells. Moreover, we identified a unique patient with a heterozygous missense mutation in the coiled-coil domain of STAT5B that presented with autoimmune lymphoproliferative syndrome-like features. Similar to mice, this patient exhibited increased CD4 TEM cells in the peripheral blood. The mutant STAT5B protein dominantly interfered with STAT5-driven transcriptional activity, leading to global downregulation of STAT5-regulated genes in patient T cells upon IL-2 stimulation. Notably, CD4 TEM cells from the patient were strikingly resistant to cell death by in vitro TCR restimulation, a finding that was recapitulated in mice. Hence, STAT5B is a crucial regulator of RICD in memory T cells in mice and humans.
[Mh] Termos MeSH primário: Apoptose
Síndrome Linfoproliferativa Autoimune/imunologia
Linfócitos T CD4-Positivos/imunologia
Sobrevivência Celular
Fator de Transcrição STAT5/metabolismo
[Mh] Termos MeSH secundário: Animais
Anticorpos Neutralizantes/metabolismo
Síndrome Linfoproliferativa Autoimune/genética
Células Cultivadas
Feminino
Seres Humanos
Memória Imunológica
Interleucina-2/imunologia
Ativação Linfocitária
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Mutação de Sentido Incorreto/genética
Fator de Transcrição STAT5/genética
Transdução de Sinais
Transcrição Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (Antibodies, Neutralizing); 0 (Interleukin-2); 0 (STAT5 Transcription Factor)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180131
[Lr] Data última revisão:
180131
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171201
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1701133


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[PMID]:28937520
[Au] Autor:Martínez-Valdez L; Deyà-Martínez A; Giner MT; Berrueco R; Esteve-Solé A; Juan M; Plaza-Martín AM; Alsina L
[Ad] Endereço:Departments of *Allergy and Clinical Immunology ‡Hematology and Oncology, Hospital Sant Joan de Dèu, Institut de Recerca Pediàtrica Hospital Sant Joan de Dèu, Esplugues de Llobregat §Immunology Department, Hospital Clinic-IDIBAPS, Universitat de Barcelona †Functional Unit of Clinical Immunology SJD-Clinic, Barcelona, Spain.
[Ti] Título:Evans Syndrome as First Manifestation of Primary Immunodeficiency in Clinical Practice.
[So] Source:J Pediatr Hematol Oncol;39(7):490-494, 2017 Oct.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Evans syndrome (ES) is a rare immune disorder in children, manifested by simultaneous or sequential autoimmune cytopenias (ACs) of unknown cause and having a chronic course with periods of exacerbation and remission. Some primary immunodeficiencies (PIDs) may present with autoimmune manifestations without infections, masking suspicion of them. The PIDs that can typically manifest as ES are autoimmune lymphoproliferative syndrome and common variable immunodeficiency (CVID). MATERIALS AND METHODS: Review of clinical charts and laboratory results of pediatric patients followed-up in the outpatient clinic of PID with a diagnosis of ES and humoral immunodeficiency. RESULTS: Three pediatric patients, a boy and 2 girls, presented with corticosteroid-dependent ES. In the diagnostic approach, autoimmune lymphoproliferative syndrome was ruled out, and during follow-up, patients showed laboratory signs of humoral immune deficiency and were diagnosed with CVID. After initiating the recommended treatment for CVID with AC, patients improved without new exacerbations. CONCLUSIONS: These cases highlight the importance of detection of possible PID in the context of ES and the establishment of CVID treatment to control AC.
[Mh] Termos MeSH primário: Anemia Hemolítica Autoimune/imunologia
Imunodeficiência de Variável Comum/diagnóstico
Síndromes de Imunodeficiência/patologia
Trombocitopenia/imunologia
[Mh] Termos MeSH secundário: Síndrome Linfoproliferativa Autoimune
Criança
Pré-Escolar
Imunodeficiência de Variável Comum/terapia
Diagnóstico Diferencial
Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Evans Syndrome)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170923
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000880


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[PMID]:28780879
[Au] Autor:Kohalmi KV; Veszeli N; Luczay A; Varga L; Farkas H
[Ad] Endereço:III. Belgyógyászati Klinika, Országos Angiooedema Központ, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Kútvölgyi út 4., 1125.
[Ti] Título:[Effect of danazol treatment on growth in pediatric patients with hereditary angioedema due to C1-inhibitor deficiency].
[Ti] Título:A danazolkezelés hatása C1-inhibitor-hiány okozta hereditaer angiooedemás gyermekek növekedésére..
[So] Source:Orv Hetil;158(32):1269-1276, 2017 Aug.
[Is] ISSN:0030-6002
[Cp] País de publicação:Hungary
[La] Idioma:hun
[Ab] Resumo:INTRODUCTION: Attenuated androgens are used for the prevention of angioedema attacks of hereditary angioedema with C1-inhibitor deficiency. After prepuberty, their use can lead to growth retardation. AIM: We assessed the effect of danazol on the growth of pediatric patients with hereditary angioedema. METHOD: In the retrospective study on 42 patients diagnosed with hereditary angioedema, we calculated the deviation from the mid-parental target height, and analyzed it against the gender, the dose and duration of danazol treatment administered before the age of 21 years and before the age of 16 years. RESULTS: Regarding the deviation from the mid-parental target height, we did not find any significant difference between patients taking vs. not taking danazol, males vs. females taking danazol. The dose and the duration of danazol treatment did not influence that value neither before 21, nor before 16 years of age. CONCLUSIONS: Our findings suggest that treatment with the lowest effective doses of danazol does not influence growth. Orv Hetil. 2017; 158(32): 1269-1276.
[Mh] Termos MeSH primário: Angioedemas Hereditários/tratamento farmacológico
Síndrome Linfoproliferativa Autoimune/tratamento farmacológico
Danazol/uso terapêutico
Antagonistas de Estrogênios/uso terapêutico
Transtornos do Crescimento/induzido quimicamente
[Mh] Termos MeSH secundário: Adolescente
Angioedemas Hereditários/genética
Síndrome Linfoproliferativa Autoimune/genética
Criança
Proteína Inibidora do Complemento C1/genética
Danazol/efeitos adversos
Antagonistas de Estrogênios/efeitos adversos
Feminino
Seres Humanos
Masculino
Estudos Retrospectivos
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Complement C1 Inhibitor Protein); 0 (Estrogen Antagonists); N29QWW3BUO (Danazol)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170808
[St] Status:MEDLINE
[do] DOI:10.1556/650.2017.30806


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[PMID]:28641577
[Au] Autor:Singer J; Testori C; Schellongowski P; Handisurya A; Müller C; Reitter EM; Graninger W; Knöbl P; Staudinger T; Winkler S; Thalhammer F
[Ad] Endereço:Division of Infectious Diseases and Tropical Medicine, Department of Internal Medicine I, Medical University of Vienna, 1090, Vienna, Austria.
[Ti] Título:A case report of septic shock syndrome caused by S. pneumoniae in an immunocompromised patient despite of vaccination.
[So] Source:BMC Infect Dis;17(1):442, 2017 Jun 22.
[Is] ISSN:1471-2334
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND CASE PRESENTATION: We report a case of septic shock syndrome caused by Streptococcus pneumoniae in a patient who had undergone splenectomy due to an autoimmune lymphoproliferative syndrome (ALPS), which is characterized as a dysfunction of immunoregulation. Although the patient was vaccinated with a conjugated polysaccharide vaccine after the splenectomy, he was still susceptible to S. pneumoniae infection, because the isolated serovar (24F), a serovar long thought to be apathogenic, is not covered by any vaccine currently approved, neither a conjugated nor an unconjugated polysaccharide one. CONCLUSIONS: This case demonstrates that, due to presence of different serovars, also infections with bacteria against which patients are vaccinated have to be considered as differential diagnosis. Although vaccine development has extended the coverage of S. pneumoniae from 7 to 23 serovars within recent years, there is still demand for novel vaccines which can provide broader protection also against so-thought "apathogenic" strains, especially for groups at high risk.
[Mh] Termos MeSH primário: Infecções Pneumocócicas/complicações
Vacinas Pneumocócicas/farmacologia
Choque Séptico/microbiologia
[Mh] Termos MeSH secundário: Adulto
Síndrome Linfoproliferativa Autoimune/cirurgia
Seres Humanos
Hospedeiro Imunocomprometido
Masculino
Infecções Pneumocócicas/microbiologia
Infecções Pneumocócicas/prevenção & controle
Sorogrupo
Choque Séptico/tratamento farmacológico
Esplenectomia
Streptococcus pneumoniae/imunologia
Streptococcus pneumoniae/isolamento & purificação
Streptococcus pneumoniae/patogenicidade
Falha de Tratamento
Vacinas Conjugadas/farmacologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Pneumococcal Vaccines); 0 (Vaccines, Conjugate)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170624
[St] Status:MEDLINE
[do] DOI:10.1186/s12879-017-2481-y


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[PMID]:28579554
[Au] Autor:Nabhani S; Schipp C; Miskin H; Levin C; Postovsky S; Dujovny T; Koren A; Harlev D; Bis AM; Auer F; Keller B; Warnatz K; Gombert M; Ginzel S; Borkhardt A; Stepensky P; Fischer U
[Ad] Endereço:Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University Düsseldorf, Germany.
[Ti] Título:STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds.
[So] Source:Clin Immunol;181:32-42, 2017 Aug.
[Is] ISSN:1521-7035
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Autoimmune lymphoproliferative syndrome (ALPS) is typically caused by mutations in genes of the extrinsic FAS mediated apoptotic pathway, but for about 30% of ALPS-like patients the genetic diagnosis is lacking. We analyzed 30 children with ALPS-like disease of unknown cause and identified two dominant gain-of-function mutations of the Signal Transducer And Activator Of Transcription 3 (STAT3, p.R278H, p.M394T) leading to increased transcriptional activity. Hyperactivity of STAT3, a known repressor of FAS, was associated with decreased FAS-mediated apoptosis, mimicking ALPS caused by FAS mutations. Expression of BCL2 family proteins, further targets of STAT3 and regulators of the intrinsic apoptotic pathway, was disturbed. Cells with hyperactive STAT3 were consequently more resistant to intrinsic apoptotic stimuli and STAT3 inhibition alleviated this effect. Importantly, STAT3-mutant cells were more sensitive to death induced by the BCL2-inhibitor ABT-737 indicating a dependence on anti-apoptotic BCL2 proteins and potential novel therapeutic options.
[Mh] Termos MeSH primário: Apoptose/genética
Síndrome Linfoproliferativa Autoimune/genética
Fator de Transcrição STAT3/genética
[Mh] Termos MeSH secundário: Compostos de Bifenilo
Hidroxitolueno Butilado/análogos & derivados
Estudos de Casos e Controles
Pré-Escolar
Ensaio de Imunoadsorção Enzimática
Família
Proteína Ligante Fas/metabolismo
Feminino
Perfilação da Expressão Gênica
Mutação em Linhagem Germinativa
Seres Humanos
Immunoblotting
Imunofenotipagem
Leucócitos Mononucleares
Linfócitos
Nitrofenóis
Piperazinas
Proteínas Proto-Oncogênicas c-bcl-2/antagonistas & inibidores
Proteínas Proto-Oncogênicas c-bcl-2/metabolismo
Reação em Cadeia da Polimerase em Tempo Real
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Análise de Sequência de DNA
Sulfonamidas
Linfócitos T/efeitos dos fármacos
Linfócitos T/metabolismo
Receptor fas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ABT-737); 0 (Biphenyl Compounds); 0 (FAS protein, human); 0 (FASLG protein, human); 0 (Fas Ligand Protein); 0 (Nitrophenols); 0 (Piperazines); 0 (Proto-Oncogene Proteins c-bcl-2); 0 (STAT3 Transcription Factor); 0 (STAT3 protein, human); 0 (Sulfonamides); 0 (fas Receptor); 1P9D0Z171K (Butylated Hydroxytoluene); 728-39-2 (BH 3)
[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:170606
[St] Status:MEDLINE


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[PMID]:28500641
[Au] Autor:Levy-Mendelovich S; Lev A; Rechavi E; Barel O; Golan H; Bielorai B; Neumann Y; Simon AJ; Somech R
[Ad] Endereço:Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, "Edmond and Lily Safra" Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
[Ti] Título:T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing.
[So] Source:Clin Exp Immunol;189(3):310-317, 2017 Sep.
[Is] ISSN:1365-2249
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Ras-associated lymphoproliferative disease (RALD) is an autoimmune lymphoproliferative syndrome (ALPS)-like disease caused by mutations in Kirsten rat sarcoma viral oncogene homologue (KRAS) or neuroblastoma RAS viral (V-Ras) oncogene homologue (NRAS). The immunological phenotype and pathogenesis of RALD have yet to be studied extensively. Here we report a thorough immunological investigation of a RALD patient with a somatic KRAS mutation. Patient lymphocytes were analysed for phenotype, immunoglobulin levels and T cell proliferation capacity. T and B cell receptor excision circles (TREC and KREC, respectively), markers of naive T and B cell production, were measured serially for 3 years. T and B cell receptor repertoires were studied using both traditional assays as well as next-generation sequencing (NGS). TREC and KREC declined dramatically with time, as did T cell receptor diversity. NGS analysis demonstrated T and B clonal expansions and marked restriction of T and B cell receptor repertoires compared to healthy controls. Our results demonstrate, at least for our reported RALD patient, how peripheral T and B clonal expansions reciprocally limit lymphocyte production and restrict the lymphocyte receptor repertoire in this disease. Decreased naive lymphocyte production correlated with a clinical deterioration in our patient's immune status, suggesting that TREC and KREC may be used as an aid in monitoring disease progression. Both the methodologies used here and the conclusions regarding immune homeostasis may be applicable to the research of ALPS and other immune dysregulation syndromes.
[Mh] Termos MeSH primário: Síndrome Linfoproliferativa Autoimune/genética
Síndrome Linfoproliferativa Autoimune/imunologia
Linfócitos B/fisiologia
Genes ras
Mutação
Linfócitos T/fisiologia
[Mh] Termos MeSH secundário: Linfócitos B/imunologia
Criança
Feminino
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Fenótipo
Receptores de Antígenos de Linfócitos B/genética
Receptores de Antígenos de Linfócitos B/imunologia
Receptores de Antígenos de Linfócitos T/genética
Receptores de Antígenos de Linfócitos T/imunologia
Linfócitos T/imunologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Antigen, B-Cell); 0 (Receptors, Antigen, T-Cell)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170514
[St] Status:MEDLINE
[do] DOI:10.1111/cei.12986


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[PMID]:28478106
[Au] Autor:van de Ven AAJM; Seidl M; Drendel V; Schmitt-Graeff A; Voll RE; Rensing-Ehl A; Speckmann C; Ehl S; Warnatz K; Kollert F
[Ad] Endereço:Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
[Ti] Título:IgG4-related disease in autoimmune lymphoproliferative syndrome.
[So] Source:Clin Immunol;180:97-99, 2017 Jul.
[Is] ISSN:1521-7035
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A patient with autoimmune lymphoproliferative disorder (ALPS) developed IgG4-related disease. In retrospect, he had high levels of serum IgG4 for several years prior to presenting with IgG4-related pancreatitis. These high IgG4 levels were masked by hypergammaglobulinemia, a common feature of ALPS. We next screened 18 ALPS patients; four of them displayed increased levels of IgG4. Hence, IgG4-related disease should be considered in ALPS patients, especially in those manifesting lymphocytic organ infiltration or excessive hypergammaglobulinaemia. Screening of IgG4-related disease patients for ALPS-associated mutations would provide further information on whether this disease could be a late-onset atypical presentation of ALPS.
[Mh] Termos MeSH primário: Síndrome Linfoproliferativa Autoimune/imunologia
Imunoglobulina G/imunologia
[Mh] Termos MeSH secundário: Adulto
Síndrome Linfoproliferativa Autoimune/sangue
Síndrome Linfoproliferativa Autoimune/patologia
Seres Humanos
Hipergamaglobulinemia/imunologia
Imunoglobulina G/sangue
Linfonodos/patologia
Transtornos Linfoproliferativos/imunologia
Masculino
Pâncreas/patologia
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Immunoglobulin G)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170829
[Lr] Data última revisão:
170829
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170508
[St] Status:MEDLINE


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[PMID]:28349581
[Au] Autor:Xu X; Yu B; Cai W; Huang Z
[Ad] Endereço:Institute of Human Virology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China.
[Ti] Título:TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)-like phenotypes of lpr/lpr mice.
[So] Source:Scand J Immunol;85(6):406-416, 2017 Jun.
[Is] ISSN:1365-3083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Autoimmune lymphoproliferative syndrome (ALPS) is an incurable disease, which is characterized by non-malignant autoimmune lymphoproliferation. TCF1 is a key effector in the canonical Wnt/ß-catenin pathway, regulating the development, activation and function of T cells. In this study, we aimed to explore the potential role of TCF1 in the development of ALPS-like phenotypes of lpr/lpr mice. We acquired TCF1 lpr/lpr double mutant mice by crossing TCF1 deficiency mice with lpr/lpr mice. Splenocyte compositions, serum cytokines levels, antidsDNA antibody production and kidney pathology were examined in the TCF1 lpr/lpr mice. With these examinations, we revealed that TCF1 deficiency relieved most manifestations of ALPS-like phenotype, which were caused by Fas mutation in TCF1 lpr/lpr mice. Splenocyte total numbers and compositions were downregulated to the similar levels with wildtype mice. T and T cells were decreased in TCF1 lpr/lpr compared with lpr/lpr mice. The levels of autoantibodies and proinflammatory factors in serum, and the histopathology changes and the relative mRNA levels of proinflammatory factors in kidney all displayed parallel tendency in TCF1 lpr/lpr mice. Our study demonstrated that TCF1 deficiency ameliorated the ALPS-like phenotypes of TCF1 lpr/lpr mice, which might indicate a potential therapeutic direction for ALPS.
[Mh] Termos MeSH primário: Síndrome Linfoproliferativa Autoimune/genética
Fator 1-alfa Nuclear de Hepatócito/genética
Mutação
Receptor fas/genética
[Mh] Termos MeSH secundário: Animais
Autoanticorpos/sangue
Síndrome Linfoproliferativa Autoimune/metabolismo
Síndrome Linfoproliferativa Autoimune/patologia
Citocinas/sangue
Citocinas/genética
Citocinas/metabolismo
Ensaio de Imunoadsorção Enzimática
Expressão Gênica
Predisposição Genética para Doença/genética
Genótipo
Fator 1-alfa Nuclear de Hepatócito/deficiência
Mediadores da Inflamação/sangue
Mediadores da Inflamação/metabolismo
Rim/metabolismo
Rim/patologia
Camundongos Endogâmicos C57BL
Camundongos Endogâmicos MRL lpr
Camundongos Knockout
Microscopia de Fluorescência
Fenótipo
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Baço/metabolismo
Baço/patologia
Receptor fas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Autoantibodies); 0 (Cytokines); 0 (Fas protein, mouse); 0 (Hepatocyte Nuclear Factor 1-alpha); 0 (Hnf1a protein, mouse); 0 (Inflammation Mediators); 0 (fas Receptor)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170329
[St] Status:MEDLINE
[do] DOI:10.1111/sji.12546


  9 / 143 MEDLINE  
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[PMID]:28234735
[Au] Autor:Cayrol J; Garrido Colino C
[Ad] Endereço:Department of Pediatric Hematology-Oncology, Gregorio Marañón Children's Hospital, Biomedical Research Institute, Madrid, Spain.
[Ti] Título:Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports.
[So] Source:J Pediatr Hematol Oncol;39(4):e187-e190, 2017 May.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte apoptosis. Children present with chronic nonmalignant lymphadenopathy, hepatosplenomegaly, and autoimmune cytopenias. Recent advances show efficacy of treatment with immunosuppressive drugs. Sirolimus, an mammalian target of rapamycin inhibitor, improves autoimmune cytopenias and lymphoproliferation, with a safe profile. We present 2 patients, a 5-year-old girl and 15-year-old boy, diagnosed with ALPS with initial partial response to steroid treatment. Autoimmune cytopenias and lymphoproliferation then became refractory to treatment, with recurrence of symptoms. In both cases, treatment with sirolimus was started, with a rapid response, complete remission of cytopenias, and resolution of lymphoproliferation, with no significant adverse effects. CONCLUSION: sirolimus is an effective and safe drug for controlling children with cytopenias and lymphoproliferation linked to ALPS.
[Mh] Termos MeSH primário: Síndrome Linfoproliferativa Autoimune/tratamento farmacológico
Pancitopenia/tratamento farmacológico
Sirolimo/administração & dosagem
[Mh] Termos MeSH secundário: Adolescente
Pré-Escolar
Feminino
Seres Humanos
Transtornos Linfoproliferativos/tratamento farmacológico
Masculino
Sirolimo/uso terapêutico
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
W36ZG6FT64 (Sirolimus)
[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:170225
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000785


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[PMID]:27846610
[Au] Autor:Xie Y; Pittaluga S; Price S; Raffeld M; Hahn J; Jaffe ES; Rao VK; Maric I
[Ad] Endereço:Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
[Ti] Título:Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation.
[So] Source:Haematologica;102(2):364-372, 2017 Feb.
[Is] ISSN:1592-8721
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Autoimmune lymphoproliferative syndrome is a rare genetic disorder characterized by defective FAS-mediated apoptosis, autoimmune disease, accumulation of mature T-cell receptor alpha/beta positive, CD4 and CD8 double-negative T cells and increased risk of lymphoma. Despite frequent hematologic abnormalities, literature is scarce regarding the bone marrow pathology in autoimmune lymphoproliferative syndrome. We retrospectively reviewed 3l bone marrow biopsies from a cohort of 240 patients with germline FAS mutations. All biopsies were performed for the evaluation of cytopenias or to rule out lymphoma. Clinical information was collected and morphological, immunohistochemical, flow cytometric and molecular studies were performed. Bone marrow lymphocytosis was the predominant feature, present in 74% (23/31) of biopsies. The lymphoid cells showed several different patterns of infiltration, most often forming aggregates comprising T cells in 15 cases, B cells in one and a mixture of T and B cells in the other seven cases. Double-negative T cells were detected by immunohistochemistry in the minority of cases (10/31; 32%); significantly, all but one of these cases had prominent double-negative T-lymphoid aggregates, which in four cases diffusely replaced the marrow space. One case showed features of Rosai-Dorfman disease, containing scattered S-100 cells with emperipolesis and double-negative T cells. No clonal B or T cells were detected by polymerase chain reaction in any evaluated cases. Classical Hodgkin lymphoma was identified in three cases. Our results demonstrate that infiltrates of T cells, or rarely B cells, can be extensive in patients with autoimmune lymphoproliferative syndrome, mimicking lymphoma. A multi-modality approach, integrating clinical, histological, immunohistochemical as well as other ancillary tests, can help avoid this diagnostic pitfall. This study is registered at Clinicaltrials.gov ID # NCT00001350.
[Mh] Termos MeSH primário: Síndrome Linfoproliferativa Autoimune/genética
Células da Medula Óssea/metabolismo
Mutação em Linhagem Germinativa
Receptor fas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Síndrome Linfoproliferativa Autoimune/metabolismo
Síndrome Linfoproliferativa Autoimune/patologia
Biomarcadores
Biópsia
Medula Óssea/patologia
Células da Medula Óssea/patologia
Criança
Pré-Escolar
Análise Mutacional de DNA
Feminino
Seres Humanos
Imuno-Histoquímica
Imunofenotipagem
Lactente
Linfócitos/metabolismo
Linfócitos/patologia
Masculino
Avaliação de Resultados da Assistência ao Paciente
Fenótipo
Prognóstico
Adulto Jovem
Receptor fas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (fas Receptor)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161116
[Cl] Clinical Trial:ClinicalTrial
[St] Status:MEDLINE
[do] DOI:10.3324/haematol.2015.138081



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