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  1 / 2917 MEDLINE  
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[PMID]:28471497
[Au] Autor:Jacob CO; Yu N; Yoo DG; Perez-Zapata LJ; Barbu EA; Kaplan MJ; Purmalek M; Pingel JT; Idol RA; Dinauer MC
[Ad] Endereço:University of Southern California School of Medicine, Los Angeles.
[Ti] Título:Haploinsufficiency of NADPH Oxidase Subunit Neutrophil Cytosolic Factor 2 Is Sufficient to Accelerate Full-Blown Lupus in NZM 2328 Mice.
[So] Source:Arthritis Rheumatol;69(8):1647-1660, 2017 08.
[Is] ISSN:2326-5205
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: We have previously established that the gene for neutrophil cytosolic factor 2 (NCF-2) predisposes to lupus, and we have identified lupus patients with point mutations that are predicted to cause reduced NADPH oxidase activity. We undertook this study to investigate the relationship between reduced leukocyte NADPH oxidase activity and immune dysregulation associated with systemic lupus erythematosus (SLE). METHODS: We generated NCF-2-null mice, in which NADPH oxidase activity is absent, on the nonautoimmune C57BL/6 (B6) mouse background and on the NZM 2328 mouse background, a polygenic model in which mice spontaneously develop lupus. Clinical disease, serology, and immunopathology were evaluated. RESULTS: NCF-2-null mice on the B6 background were susceptible to Aspergillus fumigatus pneumonia characteristic of chronic granulomatous disease, but did not develop systemic lupus disease. In contrast, NCF-2-null and even NCF-2-haploinsufficient mice on the NZM 2328 background developed accelerated full-blown lupus with significantly accelerated lupus kidney disease. This was characterized by more rapid development of hyperactive B cell and T cell immune compartments, increased expression of type I interferon-responsive genes, and generation of neutrophil extracellular traps, which were observed even in the absence of NADPH oxidase activity. CONCLUSION: Just as patients with chronic granulomatous disease who lack NADPH oxidase rarely develop SLE, NCF-2-null mice on a nonautoimmune background were susceptible to a chronic granulomatous disease-like opportunistic infection but did not develop lupus. In contrast, on a lupus-prone background, even haploinsufficiency of NCF-2 accelerated the development of full-blown lupus disease. This establishes an interaction between reduced oxidase activity and other lupus-predisposing genes, paralleling human SLE-associated variants predicted to have only reduced NADPH oxidase activity.
[Mh] Termos MeSH primário: Haploinsuficiência/genética
Lúpus Eritematoso Sistêmico/genética
Nefrite Lúpica/genética
NADPH Oxidases/genética
[Mh] Termos MeSH secundário: Animais
Aspergillus fumigatus
Linfócitos B/imunologia
Catelicidinas/imunologia
Progressão da Doença
Ensaio de Imunoadsorção Enzimática
Armadilhas Extracelulares/imunologia
Regulação da Expressão Gênica/imunologia
Predisposição Genética para Doença
Doença Granulomatosa Crônica/genética
Interferon Tipo I/genética
Interferon Tipo I/imunologia
Rim/imunologia
Rim/patologia
Lúpus Eritematoso Sistêmico/imunologia
Nefrite Lúpica/imunologia
Nefrite Lúpica/patologia
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Aspergilose Pulmonar/genética
Reação em Cadeia da Polimerase em Tempo Real
Linfócitos T/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Cathelicidins); 0 (Interferon Type I); 0 (cathelicidin antimicrobial peptide); EC 1.6.3.- (NADPH Oxidases); EC 1.6.3.1 (Ncf2 protein, mouse)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:180119
[Lr] Data última revisão:
180119
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1002/art.40141


  2 / 2917 MEDLINE  
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[PMID]:28767612
[Au] Autor:Nanoudis S; Tsona A; Tsachouridou O; Morfesis P; Loli G; Georgiou A; Zebekakis P; Metallidis S
[Ad] Endereço:1st Department of Internal Medicine, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
[Ti] Título:Pyoderma gangrenosum in a patient with chronic granulomatous disease: A case report.
[So] Source:Medicine (Baltimore);96(31):e7718, 2017 Aug.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: The simultaneous occurrence of pyoderma gangrenosum (PG) and chronic granulomatous disease (CGD) is uncommon and few cases have been reported worldwide. PATIENT CONCERNS: PG is a rare, chronic, ulcerative, neutrophilic skin disease of unknown etiology that requires immunosuppressive treatment. CGD belongs to Primary Immune Deficiencies in which the main defect lies in an inability of the phagocytic cells to generate superoxide making patients susceptible to serious, potentially life-threatening bacterial and fungal infections. DIAGNOSES: In this manuscript, we present a case of ulcerative pyoderma gangrenosum in a 28-year-old man with recent diagnosis of chronic granulomatous disease during hospitalization for resistant pulmonary tuberculosis complicated with Aspergillus infection. INTERVENTIONS: Second-line therapy with dapsone and intravenous immunoglobulin was initially administered but eventually corticosteroids were added to treatment because of disease progression and further ulceration. OUTCOMES: Patient's ulcers were gradually healed with no side effects. LESSONS: Corticosteroids could be used under close monitoring for the treatment of PG in a patient with CGD, despite the increased risk for infections.
[Mh] Termos MeSH primário: Doença Granulomatosa Crônica/complicações
Pioderma Gangrenoso/complicações
Úlcera/complicações
[Mh] Termos MeSH secundário: Adulto
Diagnóstico Diferencial
Doença Granulomatosa Crônica/diagnóstico
Doença Granulomatosa Crônica/patologia
Doença Granulomatosa Crônica/terapia
Seres Humanos
Masculino
Pioderma Gangrenoso/diagnóstico
Pioderma Gangrenoso/patologia
Pioderma Gangrenoso/terapia
Úlcera/diagnóstico
Úlcera/patologia
Úlcera/terapia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170803
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007718


  3 / 2917 MEDLINE  
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[PMID]:28621249
[Au] Autor:Nacaroglu HT; Bahçeci Erdem S; Gülez N; Ünsal Karkiner CS; Devrim I; Genel F; Köker MY; Can D
[Ad] Endereço:Clinic of Pediatric Immunology and Allergy, Dr. Behçet Uz Children Diseases Training and Research Hospital, Izmir, Turkey. tekin212@gmail.com.
[Ti] Título:Tuberculosis masked by immunodeficiency: a review of two cases diagnosed with chronic granulomatous disease.
[Ti] Título:Immünyetmezligin arkasina gizlenen tüberküloz; kronik granülomatöz hastalik tanisi alan iki olgunun irdelenmesi..
[So] Source:Tuberk Toraks;65(1):56-59, 2017 Mar.
[Is] ISSN:0494-1373
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunodeficiency that is characterized by recurrent and life-threatening infections resulting from defects in phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system and granuloma formation due to increased inflammatory response. The most commonly involved organs are the lungs, skin, lymph nodes, and liver due to infection. It may present with recurrent pneumonia, hilar lymphadenopathy, empyema, abscess, reticulonodular patterns, and granulomas due to lung involvement. In recent years, mycobacterial disease susceptibility has been reported in CGD cases. This article presents two male cases, one of whom is aged 18 months and the other is aged 5 years, who were diagnosed with CGD and tuberculosis during examination due to extended pneumonia. This report is presented because CGD should be considered not only in the presence of skin abscesses and Aspergillus infections, but also in the differential diagnosis for cases with BCG-itis and/or tuberculosis. It should be kept in mind that mycobacterial infections can occur during the course of the disease.
[Mh] Termos MeSH primário: Doença Granulomatosa Crônica/complicações
Tuberculose/complicações
[Mh] Termos MeSH secundário: Pré-Escolar
Diagnóstico Diferencial
Suscetibilidade a Doenças
Granuloma/diagnóstico
Doença Granulomatosa Crônica/diagnóstico
Seres Humanos
Lactente
Doenças Linfáticas/diagnóstico
Masculino
Pneumonia/diagnóstico
Tomografia Computadorizada por Raios X
Tuberculose/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170617
[St] Status:MEDLINE


  4 / 2917 MEDLINE  
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[PMID]:28356734
[Au] Autor:Brault J; Vaganay G; Le Roy A; Lenormand JL; Cortes S; Stasia MJ
[Ad] Endereço:UMR CNRS 5525, University of Grenoble Alpes, Grenoble, France; CGD Diagnosis and Research Centre, University Hospital Centre of Grenoble Alpes, Grenoble, France.
[Ti] Título:Therapeutic effects of proteoliposomes on X-linked chronic granulomatous disease: proof of concept using macrophages differentiated from patient-specific induced pluripotent stem cells.
[So] Source:Int J Nanomedicine;12:2161-2177, 2017.
[Is] ISSN:1178-2013
[Cp] País de publicação:New Zealand
[La] Idioma:eng
[Ab] Resumo:Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency due to dysfunction of the phagocytic nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex leading to severe and recurrent infections in early childhood. The main genetic form is the X-linked CGD leading to the absence of cytochrome composed of NOX2 and p22 , the membrane partners of the NADPH oxidase complex. The first cause of death of CGD patients is pulmonary infections. Recombinant proteoliposome-based therapy is an emerging and innovative approach for membrane protein delivery, which could be an alternative local, targeted treatment to fight lung infections in CGD patients. We developed an enzyme therapy using recombinant NOX2/p22 liposomes to supply the NADPH oxidase activity in X -linked CGD (X -CGD) macrophages. Using an optimized prokaryotic cell-free protein synthesis system, a recombinant cytochrome containing functional hemes was produced and directly inserted into the lipid bilayer of specific liposomes. The size of the NOX2/p22 liposomes was estimated to be around 700 nm. These proteoliposomes were able to generate reactive oxygen species (ROS) in an activated reconstituted cell-free NADPH oxidase activation assay in the presence of recombinant p47 , p67 and Rac, the cytosolic components of the NADPH oxidase complex. Furthermore, using flow cytometry and fluorescence microscopy, we demonstrated that cytochrome was successfully delivered to the plasma membrane of X -CGD-induced pluripotent stem cell (iPSC)-derived macrophages. In addition, NADPH oxidase activity was restored in X -CGD iPSC-derived macrophages treated with NOX2/p22 liposomes for 8 h without any toxicity. In conclusion, we confirmed that proteoliposomes provide a new promising technology for the delivery of functional proteins to the membrane of targeted cells. This efficient liposomal enzyme replacement therapy will be useful for future treatment of pulmonary infections in CGD patients refractory to conventional anti-infectious treatments.
[Mh] Termos MeSH primário: Diferenciação Celular
Doenças Genéticas Ligadas ao Cromossomo X/tratamento farmacológico
Doença Granulomatosa Crônica/tratamento farmacológico
Células-Tronco Pluripotentes Induzidas/patologia
Macrófagos/patologia
Proteolipídeos/uso terapêutico
[Mh] Termos MeSH secundário: Candida/metabolismo
Membrana Celular/metabolismo
Pré-Escolar
Seres Humanos
Macrófagos/metabolismo
NADPH Oxidases/metabolismo
Fagocitose
Subunidades Proteicas/metabolismo
Espécies Reativas de Oxigênio/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Protein Subunits); 0 (Proteolipids); 0 (Reactive Oxygen Species); 0 (proteoliposomes); EC 1.6.3.- (NADPH Oxidases)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170331
[St] Status:MEDLINE
[do] DOI:10.2147/IJN.S128611


  5 / 2917 MEDLINE  
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[PMID]:28332028
[Au] Autor:Rawat A; Vignesh P; Sharma A; Shandilya JK; Sharma M; Suri D; Gupta A; Gautam V; Ray P; Rudramurthy SM; Chakrabarti A; Imai K; Nonoyama S; Ohara O; Lau YL; Singh S
[Ad] Endereço:Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigargh, 160012, India. rawatamit@yahoo.com.
[Ti] Título:Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India.
[So] Source:J Clin Immunol;37(3):319-328, 2017 Apr.
[Is] ISSN:1573-2592
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Chronic granulomatous disease (CGD) is an inherited phagocytic disorder characterized by recurrent infections with usually catalase-positive organisms. Infections in CGD from developing countries are expected to be different from those in the Western countries. We report the profile of infections in children diagnosed with CGD from a tertiary care center in North India. METHODOLOGY: Case records of children diagnosed with CGD at Pediatric Immunodeficiency Clinic, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India, from August 1993 to April 2016 (23 years) were analyzed. RESULTS: Thirty-eight children were diagnosed to have CGD. Median follow-up of patients was 2 years (interquartile range 0.75, 6.0). Staphylococcus aureus and Pseudomonas spp. were the two most common causative bacteria isolated. Aspergillus was the most common fungus isolated. The most common organ involved was the lung (94.7%). Liver abscesses were identified in 5 patients (13.2%), and 20 (52.6%) patients had lymphadenitis. Infections with Pseudomonas spp. were high in our cohort (15.7%) compared to the other studies. Infections with some unusual organisms (e.g., Fusarium dimerium and Chryseobacterium gleum) were also seen in our cohort. Children with X-linked CGD presented earlier and also had a greater number of infections as compared to autosomal recessive CGD. CONCLUSIONS: Various socioeconomic factors coupled with the lack of awareness and paucity of readily available diagnostic facilities for primary immunodeficiencies accounted for a late clinical presentation with severe infections and increased mortality (28.9%) in our cohort. However, mortality was similar in X-linked and autosomal recessive CGD as was the number of fungal infections. The incidence of infections and mortality was significantly lower after initiation of antibacterial and antifungal prophylaxis.
[Mh] Termos MeSH primário: Doença Granulomatosa Crônica/complicações
Doença Granulomatosa Crônica/epidemiologia
Infecção/epidemiologia
Infecção/etiologia
[Mh] Termos MeSH secundário: Idade de Início
Anti-Infecciosos/uso terapêutico
Antibioticoprofilaxia
Pré-Escolar
Coinfecção
Análise Mutacional de DNA
Feminino
Seguimentos
Doença Granulomatosa Crônica/diagnóstico
Doença Granulomatosa Crônica/etiologia
Seres Humanos
Imunofenotipagem
Índia/epidemiologia
Lactente
Infecção/diagnóstico
Infecção/tratamento farmacológico
Controle de Infecções
Masculino
Mortalidade
Mutação
Fenótipo
Centros de Atenção Terciária
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Infective Agents)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171022
[Lr] Data última revisão:
171022
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170324
[St] Status:MEDLINE
[do] DOI:10.1007/s10875-017-0382-x


  6 / 2917 MEDLINE  
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[PMID]:28329526
[Au] Autor:Carvalho S; Machado S; Sampaio R; Guedes M; Vasconcelos J; Semedo D; Selores M
[Ad] Endereço:Department of Dermatology, Centro Hospitalar do Porto, Oporto, Portugal. carvalhosandrine@gmail.com.
[Ti] Título:Chronic granulomatous disease as a risk factor for cutaneous lupus in childhood.
[So] Source:Dermatol Online J;23(3), 2017 Mar 15.
[Is] ISSN:1087-2108
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Chronic granulomatous disease (CGD) is a primaryimmunodeficiency disorder that affects the phagocyticcells of the innate immune system. It is characterizedby recurrent or persistent infections with granulomaformation. Lupus-like lesions have been reported incarriers of CGD and less frequently, in patients withCGD. Immunological study in these patients areusually negative. We describe the case of an 8-yearoldboy with CGD who developed chronic and acutecutaneous lupus erythematous with angular cheilitis,oral ulcers, Raynaud phenomenon, and positiveserologies for antinuclear, anticentromere, and anti-Saccharomyces cerevisiae antibodies.
[Mh] Termos MeSH primário: Dermatoses Faciais/diagnóstico
Dermatoses do Pé/diagnóstico
Doença Granulomatosa Crônica/imunologia
Lúpus Eritematoso Cutâneo/diagnóstico
[Mh] Termos MeSH secundário: Anticorpos Antinucleares/imunologia
Anticorpos Antifúngicos/imunologia
Queilite/complicações
Queilite/diagnóstico
Queilite/imunologia
Criança
Dermatoses Faciais/complicações
Dermatoses Faciais/imunologia
Dermatoses Faciais/patologia
Dermatoses do Pé/complicações
Dermatoses do Pé/imunologia
Dermatoses do Pé/patologia
Doença Granulomatosa Crônica/complicações
Seres Humanos
Lúpus Eritematoso Cutâneo/complicações
Lúpus Eritematoso Cutâneo/imunologia
Lúpus Eritematoso Cutâneo/patologia
Masculino
Úlceras Orais/complicações
Úlceras Orais/diagnóstico
Úlceras Orais/imunologia
Doença de Raynaud/complicações
Doença de Raynaud/diagnóstico
Doença de Raynaud/imunologia
Fatores de Risco
Saccharomyces cerevisiae/imunologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Antinuclear); 0 (Antibodies, Fungal); 0 (anticentromere antibody)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE


  7 / 2917 MEDLINE  
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[PMID]:28320834
[Au] Autor:Chu J; Smelkinson MG; Dorward DW; Zarember KA; Gallin JI
[Ad] Endereço:Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
[Ti] Título:Early Intracellular Trafficking of Granulibacter bethesdensis in Human Macrophages.
[So] Source:Infect Immun;85(6), 2017 Jun.
[Is] ISSN:1098-5522
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:is a Gram-negative bacterium that infects patients with chronic granulomatous disease (CGD), a primary immunodeficiency marked by a defect in NOX2, the phagocyte NADPH oxidase. Previous studies have shown that NOX2 is essential for killing of by neutrophils and monocytes and that the bacteriostatic activity of monocyte-derived macrophages (MDM) requires NOX2 and gamma interferon (IFN-γ) pretreatment. To determine whether evades phagolysosomal killing, a host defense pathway intact in both normal and CGD MDM, or whether it occupies a distinct intracellular niche in CGD MDM, we assessed the trafficking patterns of this organism. We observed colocalization of with an early endosome antigen 1 (EEA1)-positive compartment, followed by colocalization with lysosome-associated membrane protein 1 (LAMP1)-positive and LysoTracker-positive late phagosomes; these characteristics were similar in both normal and CGD MDM. Despite localization to acidified late phagosomes, viable cells were recovered from viable MDM in numbers greater than in the initial input up to 6 days after infection. remains, and in some cases appears to divide, within a membrane-bound compartment for the entire 6-day time course. These findings indicate that this organism resists both oxygen-dependent and oxygen-independent phagolysosomal antimicrobial systems of human macrophages.
[Mh] Termos MeSH primário: Acetobacteraceae/patogenicidade
Infecções por Bactérias Gram-Negativas/microbiologia
Doença Granulomatosa Crônica/microbiologia
Macrófagos/microbiologia
[Mh] Termos MeSH secundário: Doença Granulomatosa Crônica/complicações
Seres Humanos
Interferon gama/imunologia
Glicoproteínas de Membrana Associadas ao Lisossomo/metabolismo
Macrófagos/ultraestrutura
Glicoproteínas de Membrana/metabolismo
Microscopia Eletrônica de Transmissão
Monócitos/microbiologia
NADPH Oxidase 2
NADPH Oxidases/metabolismo
Neutrófilos/microbiologia
Fagocitose
Fagossomos/imunologia
Fagossomos/microbiologia
Proteínas de Transporte Vesicular/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (LAMP1 protein, human); 0 (Lysosome-Associated Membrane Glycoproteins); 0 (Membrane Glycoproteins); 0 (Vesicular Transport Proteins); 0 (early endosome antigen 1); 82115-62-6 (Interferon-gamma); EC 1.6.3.- (CYBB protein, human); EC 1.6.3.- (NADPH Oxidase 2); EC 1.6.3.- (NADPH Oxidases)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171123
[Lr] Data última revisão:
171123
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE


  8 / 2917 MEDLINE  
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Texto completo SciELO Chile
[PMID]:28288231
[Au] Autor:Yáñez L; Lama P; Rivacoba C; Zamorano J; Marinovic MA
[Ad] Endereço:Unidad de Paciente Crítico Pediátrico, Clínica Santa María, Santiago, Chile.
[Ti] Título:[Primary immunodeficiencies in seriously ill children: Report of 3 clinical cases].
[Ti] Título:Inmunodeficiencias primarias en niños gravemente enfermos: a propósito de 3 casos clínicos..
[So] Source:Rev Chil Pediatr;88(1):136-141, 2017 02.
[Is] ISSN:0717-6228
[Cp] País de publicação:Chile
[La] Idioma:spa
[Ab] Resumo:Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease. The second patient was an 8-month-old infant with Candida lusitaniae mesenteric adenitis, and diagnosed with a Chronic Granulomatous Disease. The last patient, a 6-month-old infant presented with ecthyma gangrenosum and X-linked agammaglobulinaemia. CONCLUSION: PID should be suspected when an infectious disease does not responde to the appropriate therapy within the expected period. An update of each disease is presented.
[Mh] Termos MeSH primário: Agamaglobulinemia/diagnóstico
Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico
Doença Granulomatosa Crônica/diagnóstico
Síndromes de Imunodeficiência/diagnóstico
[Mh] Termos MeSH secundário: Agamaglobulinemia/imunologia
Agamaglobulinemia/fisiopatologia
Doenças Genéticas Ligadas ao Cromossomo X/imunologia
Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia
Doença Granulomatosa Crônica/imunologia
Doença Granulomatosa Crônica/fisiopatologia
Seres Humanos
Síndromes de Imunodeficiência/imunologia
Síndromes de Imunodeficiência/fisiopatologia
Lactente
Unidades de Terapia Intensiva Pediátrica
Masculino
Índice de Gravidade de Doença
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170314
[St] Status:MEDLINE


  9 / 2917 MEDLINE  
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[PMID]:28251166
[Au] Autor:Wu J; Wang WF; Zhang YD; Chen TX
[Ad] Endereço:Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China; Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
[Ti] Título:Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.
[So] Source:J Immunol Res;2017:8745254, 2017.
[Is] ISSN:2314-7156
[Cp] País de publicação:Egypt
[La] Idioma:eng
[Ab] Resumo:Chronic Granulomatous Disease (CGD) is a rare inherited primary immunodeficiency, which is characterized by recurrent infections due to defective phagocyte NADPH oxidase enzyme. Nowadays, little is known about Chinese CGD patients. Here we report 48 CGD patients in our single center study, which is the largest cohort study from Mainland China. The ratio of male to female was 11 : 1. The mean onset age was 0.29 years old, and 52% patients had an onset within the 1st month of life. The mean diagnosis age was 2.24 years old. 11 patients (23%) had died with an average age of 2.91 years old. 13 patients (28%) had positive family histories. The most prevalent infectious sites were the lungs (77%), followed by gastrointestinal tract (54%), lymph nodes (50%), and skin (46%). In addition, septicopyemia, thrush, and hepatosplenomegaly were also commonly observed, accounting for 23%, 23%, and 40% of the cases. Lesions due to BCG vaccination occurred in more than half of the patients. X-linked CGD due to gene mutations accounted for 75% of the cases, and 11 of them were novel mutations. Autosomal recessive inheritance accounted for 6% patients, including 1 patient with 1 with , and 1 with gene mutations.
[Mh] Termos MeSH primário: Doença Granulomatosa Crônica/genética
Doença Granulomatosa Crônica/fisiopatologia
Mutação
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Vacina BCG/efeitos adversos
Criança
Pré-Escolar
China/epidemiologia
Estudos de Coortes
Feminino
Trato Gastrointestinal/microbiologia
Testes Genéticos
Doença Granulomatosa Crônica/congênito
Doença Granulomatosa Crônica/epidemiologia
Seres Humanos
Síndromes de Imunodeficiência/genética
Lactente
Pulmão/microbiologia
Linfonodos/microbiologia
Masculino
Glicoproteínas de Membrana/genética
Meia-Idade
NADPH Oxidase 2
NADPH Oxidases/genética
Pele/microbiologia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (BCG Vaccine); 0 (Membrane Glycoproteins); EC 1.6.3.- (CYBB protein, human); EC 1.6.3.- (NADPH Oxidase 2); EC 1.6.3.- (NADPH Oxidases); EC 1.6.3.1 (NCF2 protein, human); EC 1.6.3.1 (neutrophil cytosolic factor 1)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170303
[St] Status:MEDLINE
[do] DOI:10.1155/2017/8745254


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[PMID]:28224353
[Au] Autor:Esenboga S; Emiralioglu N; Cagdas D; Erman B; De Boer M; Oguz B; Kiper N; Tezcan I
[Ad] Endereço:Department of Pediatrics, Division of Immunology, Hacettepe University Faculty of Medicine, Sihhiye, 06100, Ankara, Turkey. salihaeren@yahoo.com.
[Ti] Título:Diagnosis of Interstitial Lung Disease Caused by Possible Hypersensitivity Pneumonitis in a Child: Think CGD.
[So] Source:J Clin Immunol;37(3):269-272, 2017 Apr.
[Is] ISSN:1573-2592
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Interstitial lung disease (ILD) is a rare and heterogeneous group of disorder affecting the lung parenchyma and has a detrimental effect on gas exchange. Chronic granulomatous disease (CGD), when it affects primarily lungs, may cause ILD. We report a 16-year-old patient with CGD caused by homozygous deletion of NCF1 who atypically presented with ILD. The patient had many pigeons and was a pigeon breeder. Exacerbated clinical symptoms were linked to hypersensitivity pneumonitis (HP), and the patient was suggested to keep away from pigeons. In addition to allergen avoidance and prophylactic antibacterial therapy, treatment with corticosteroids and hydroxychloroquine was started for mainly obstructive and persistant symptoms of ILD. CGD is known to cause a hyperinflammatory state and the patients present with excessive granuloma formation and HP. Control of inflammation either by avoidance of allergen exposure and by anti-inflammatory drugs is necessary for the relief of symptoms.
[Mh] Termos MeSH primário: Alveolite Alérgica Extrínseca/diagnóstico
Doença Granulomatosa Crônica/complicações
Doença Granulomatosa Crônica/diagnóstico
Doenças Pulmonares Intersticiais/diagnóstico
Doenças Pulmonares Intersticiais/etiologia
[Mh] Termos MeSH secundário: Adolescente
Alveolite Alérgica Extrínseca/complicações
Biomarcadores
Seres Humanos
Doenças Pulmonares Intersticiais/fisiopatologia
Masculino
Radiografia Torácica
Testes de Função Respiratória
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Biomarkers)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171022
[Lr] Data última revisão:
171022
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE
[do] DOI:10.1007/s10875-017-0376-8



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