RESUMO
INTRODUCTION AND OBJECTIVES: Vitamin D plays a role in the immune system, however studies regarding this are scarce. This study aimed to evaluate the nutritional status of vitamin D in patients with Common Variable Immunodeficiency (CVID) or Ataxia-Telangiectasia (A-T) and to relate it to body composition, inflammatory and bone metabolism markers. PATIENTS AND METHODS: This is a cross-sectional and controlled study involving 24 patients of both sexes (59.3% male), aged 8-56 years, with CVID (n=15) or A-T (n=9). The following variables were evaluated: body mass index (BMI), 25-hydroxyvitamin D (25 (OH) D), hepatic profile, parathormone, calcium, phosphorus, alkaline phosphatase, interleukin 6 and high-sensitivity C-reactive protein. RESULTS: The median age was 26.0 years. A deficiency of 25 (OH) D was found in four A-T patients (44%) and two CVID patients (13%). Nine patients with CVI (60%) and six with A-T (66.7%) were overweight and underweight, respectively. There was a negative correlation between vitamin D and fat mass in the CVID group, and vitamin D and BMI in the A-T group. Vitamin D was negatively associated with the percentage of total fat among the patients (ß - 0.842, 95% CI: -1.5-0.17, p=0.015), R2=0.21, after adjusting for sex and age. CONCLUSION: Vitamin D deficiency occurred in a quarter of the patients although there was no difference between the patient and the control group; without association with bone and inflammation biomarkers. The percentage of fat and BMI were negatively associated with the concentrations of 25 (OH) D.
Assuntos
Ataxia Telangiectasia/metabolismo , Imunodeficiência de Variável Comum/metabolismo , Vitamina D/metabolismo , Adolescente , Adulto , Biomarcadores/metabolismo , Índice de Massa Corporal , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Hormônio Paratireóideo/metabolismo , Adulto JovemRESUMO
Streptococcus agalactiae is among the most relevant aetiologic agent of bovine clinical and subclinical mastitis, a major problem for the dairy industry. In Brazil, clonal diversity, capsular typing and multidrug resistance profiles of S. agalactiae related to human and bovine infections need further investigation. Presently, S. agalactiae isolates of bovine subclinical mastitis, from Brazilian Northeastern region, were submitted to capsular and pulsed-field gel electrophoresis (PFGE)-typing, antimicrobial susceptibility and assays of biofilm formation at different time incubation and pH levels. Sixteen bovine isolates were characterized by polymerase chain reaction assay as S. agalactiae capsular type II (CTII) and classified by PFGE in A1/A2 (n = 06), B1/B2 (n = 06), C (n = 03) and D (n = 01) patterns. Bovine S. agalactiae CTII strains were classified as 25% multidrug-resistant (MDR) with susceptibility to penicillin, linezolid and vancomycin. Biofilm formation on abiotic surface was strain- and time-dependent with significantly higher rates at pH 6·5. In conclusion, S. agalactiae capsular type II isolates recovered from bovine subclinical mastitis produced different pH-dependent biofilm levels. Our findings suggest that biofilm production is modulated by environmental factors and provides S. agalactiae advantageous in colonizing mammary gland during mastitis development, including MDR strains. SIGNIFICANCE AND IMPACT OF THE STUDY: Streptococcus agalactiae is among the most relevant aetiologic agent of bovine clinical and subclinical mastitis, a major problem for the dairy industry. The disease may cause significant economic loss due to decreased production and milk quality and increased use of medicaments. Presently, data demonstrated that biofilm formation favours the establishment of infectious process in health mammary tissue by S. agalactiae and emphasizes that an acidic pH promotes adhesion by biofilm-forming bacterial strains. S. agalactiae strains (25%) showed resistance to tetracycline, azithromycin, erythromycin and clindamycin, and consequently were classified as multidrug-resistant strains.
Assuntos
Biofilmes , Mastite Bovina/microbiologia , Leite/microbiologia , Streptococcus agalactiae/fisiologia , Animais , Antibacterianos/farmacologia , Biofilmes/efeitos dos fármacos , Brasil , Bovinos , Farmacorresistência Bacteriana Múltipla , Feminino , Leite/química , Streptococcus agalactiae/efeitos dos fármacos , Streptococcus agalactiae/genética , Streptococcus agalactiae/isolamento & purificaçãoRESUMO
BACKGROUND: Ataxia-telangiectasia (AT) is a well-known primary immunodeficiency with recurrent sinopulmonary infections and variable abnormalities in both the humoral and cellular immune system. Dysfunctions in immunoglobulin production, reduced number of B cells, and B-cell receptor excision circles copies have been reported. We aimed to understand the immunological mechanisms involving the humoral compartment in AT patients by analysing peripheral blood B cells subsets, B-T lymphocyte cooperation through the expression of CD40 and CD40 ligand (CD40L), and cytokines involved in class-switch recombination production. METHODS: We compared the proportion of B-cell subsets, the expression of CD40/CD40L, and the plasma levels of IL-6 and IFN-γ of 18 AT patients and 15 healthy age-sex-matched controls using flow cytometry. RESULTS: We found that some steps in peripheral B cell development were altered in AT with a pronounced reduction of cell-surface CD40 expression. The proportions of transitional and naïve-mature B cells were reduced, whereas CD21-low, natural effector memory, IgM-only memory, and IgG atypical memory B cells were present in a higher proportion. CONCLUSIONS: These findings revealed a disturbed B-cell homeostasis with unconventional maturation of B lymphocyte memory cells, which can explain the consequent impairment of humoral immunity.
Assuntos
Ataxia Telangiectasia/imunologia , Subpopulações de Linfócitos B/imunologia , Adolescente , Adulto , Antígenos CD40/biossíntese , Criança , Pré-Escolar , Feminino , Humanos , Imunofenotipagem , Masculino , Adulto JovemRESUMO
BACKGROUND: This is a prospective study that assessed pneumococcal antibody levels in PID patients under intravenous immunoglobulin (IVIG) treatment using different brands. METHODS: Twenty-one patients receiving regular IVIG every 28 days were invited to participate: 12 with common variable immunodeficiency, six with X-linked agammaglobulinaemia and three with hyper-IgM syndrome. One blood sample was collected from each patient just prior to IVIG administration at a three-month time interval during one year. A questionnaire was filled in with patient's demographic data and history of infections during the study period. Streptococcus pneumoniae antibodies against six serotypes (1, 5, 6B, 9V, 14 and 19F) were assessed by ELISA both in patients' serum (trough levels) and in IVIG samples. RESULTS: Median total IgG trough serum levels were 7.91g/L (range, 4.59-12.20). All patients had antibody levels above 0.35µg/mL to the six serotypes on all four measurements. However, only 28.6% of patients had pneumococcal antibodies for the six analysed serotypes above 1.3µg/mL on all four evaluations during the one-year period. No correlation was found between IgG trough levels and pneumococcal specific antibodies. Eighteen of the 21 patients (85.7%) had infections at some point during the 12-month follow-up, 62/64 (96.9%) clinically classified in respiratory tract infections, four of which were pneumonia. CONCLUSIONS: Pneumococcal antibodies are present in a high range of concentrations in sera from PID patients and also in IVIG preparations. Even maintaining a recommended IgG trough level, these patients can be susceptible to these bacteria and that may contribute to recurrent respiratory infections.
Assuntos
Anticorpos Antibacterianos/sangue , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/imunologia , Pneumonia Pneumocócica/imunologia , Streptococcus pneumoniae/imunologia , Adolescente , Adulto , Brasil , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Imunoglobulina G/sangue , Síndromes de Imunodeficiência/terapia , Masculino , Pneumonia Pneumocócica/terapia , Estudos Prospectivos , Adulto JovemAssuntos
Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/genética , NADPH Oxidases/genética , Tuberculose Pulmonar/imunologia , Adulto , Antituberculosos/uso terapêutico , Biópsia , Brasil , Feminino , Humanos , Mutação , Fagócitos/enzimologia , Fagócitos/patologia , Tuberculose Pulmonar/tratamento farmacológico , Tuberculose Pulmonar/patologia , Adulto JovemRESUMO
BACKGROUND: PIDs are a heterogeneous group of genetic illnesses, and delay in their diagnosis is thought to be caused by a lack of awareness among physicians concerning PIDs. The latter is what we aimed to evaluate in Brazil. METHODS: Physicians working at general hospitals all over the country were asked to complete a 14-item questionnaire. One of the questions described 25 clinical situations that could be associated with PIDs and a score was created based on percentages of appropriate answers. RESULTS: A total of 4026 physicians participated in the study: 1628 paediatricians (40.4%), 1436 clinicians (35.7%), and 962 surgeons (23.9%). About 67% of the physicians had learned about PIDs in medical school or residency training, 84.6% evaluated patients who frequently took antibiotics, but only 40.3% of them participated in the immunological evaluation of these patients. Seventy-seven percent of the participating physicians were not familiar with the warning signs for PIDs. The mean score of correct answers for the 25 clinical situations was 48.08% (±16.06). Only 18.3% of the paediatricians, 7.4% of the clinicians, and 5.8% of the surgeons answered at least 2/3 of these situations appropriately. CONCLUSIONS: There is a lack of medical awareness concerning PIDs, even among paediatricians, who have been targeted with PID educational programmes in recent years in Brazil. An increase in awareness with regard to these disorders within the medical community is an important step towards improving recognition and treatment of PIDs.
Assuntos
Competência Clínica/estatística & dados numéricos , Síndromes de Imunodeficiência/epidemiologia , Médicos/estatística & dados numéricos , Brasil , Estudos Transversais , Cirurgia Geral , Hospitais Gerais , Humanos , Síndromes de Imunodeficiência/diagnóstico , Medicina Interna , Pediatria , Papel do Médico , Prática Profissional , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Severe combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency. The objectives of this study were to analyze the diagnosis, treatment, and prognosis of SCID in Brazil and to document the impact of BCG vaccine. METHODS: We actively searched for cases by contacting all Brazilian referral centers. RESULTS: We contacted 23 centers and 70 patients from 65 families. Patients were born between 1996 and 2011, and 49 (70%) were male. More than half (39) of the diagnoses were made after 2006. Mean age at diagnosis declined from 9.7 to 6.1 months (P = .058) before and after 2000, respectively, and mean delay in diagnosis decreased from 7.9 to 4.2 months (P = .009). Most patients (60/70) were vaccinated with BCG before the diagnosis, 39 of 60 (65%) had complications related to BCG vaccine, and the complication was disseminated in 29 of 39 (74.3%). Less than half of the patients (30, 42.9%) underwent hematopoietic stem cell transplantation (HSCT). Half of the patients died (35, 50%), and 23 of these patients had not undergone HSCT. Disseminated BCG was the cause of death, either alone or in association with other causes, in 9 of 31 cases (29%, no data for 4 cases). CONCLUSIONS: In Brazil, diagnosis of SCID has improved over the last decade, both in terms of the number of cases and age at diagnosis, although a much higher number of cases had been expected. Mortality is higher than in developed countries. Complications of BCG vaccine are an important warning sign for the presence of SCID and account for significant morbidity during disease progression.
Assuntos
Vacina BCG/efeitos adversos , Imunodeficiência Combinada Severa/terapia , Adolescente , Brasil/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/epidemiologiaRESUMO
BACKGROUND: Ataxia-telangiectasia (A-T) is a rare and degenerative disease that leads to varying degrees of immunodeficiency, oxidative stress, and malnutrition. Vitamin A and zinc are essential for immune function and antioxidant defence. OBJECTIVE: To compare levels of retinol, beta carotene, and zinc in patients with ataxia-telangiectasia and healthy controls. METHODS: We performed a cross-sectional study with 14 AT patients and 14 healthy controls matched for age and gender. All participants underwent a nutritional and laboratory evaluation comprising concentrations of retinol, beta carotene, serum and erythrocyte zinc, malondialdehyde (MDA), T lymphocyte numbers (CD4(+) and CD8(+)) and immunoglobulin (IgA). RESULTS: The AT patients showed high rates of malnutrition with reduced lean body mass when compared to the control group. However, the concentrations of MDA, retinol, beta carotene, and serum and erythrocyte zinc in AT patients were similar to those of the control group. The retinol levels presented a negative correlation with MDA and positive correlation with IgA serum level. CONCLUSIONS: The AT patients assessed showed no change in nutritional status for vitamin A and zinc; however, they presented severe impairment in overall nutritional status observed and correlation between retinol with MDA and IgA.
Assuntos
Ataxia Telangiectasia/sangue , Ataxia Telangiectasia/imunologia , Estado Nutricional , Estresse Oxidativo/fisiologia , Vitamina A/sangue , Zinco/sangue , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Adulto JovemRESUMO
BACKGROUND: Patients with common variable immunodeficiency (CVID) present with low antibody levels, impaired lymphocyte function, and chronic inflammation. Vitamin A and zinc are essential components of the immune system and can be redistributed in the body as a result of inflammation. OBJECTIVE: To compare levels of retinol, beta-carotene, and zinc in patients with CVID and healthy controls after evaluating a series of parameters for each participant. PATIENTS AND METHODS: We performed a cross-sectional study of CVID patients and healthy controls matched for age and gender. All participants underwent a nutritional and laboratory evaluation comprising a complete blood count and determination of levels of C-reactive protein (CRP), lipopolysaccharide (LPS), soluble CD14 (sCD14), retinol, beta-carotene, and serum and erythrocyte zinc. RESULTS: We included 17 patients (mean age, 28.54 years) and 17 controls. Mean (SD) retinol levels were lower in patients: 1.99 (0.67) micromol/L vs 2.72 (0.96) micromol/L. Median beta-carotene levels were similar in both groups (0.30 micromol/L). Median serum zinc levels were 50.0 microg/dL (50-100 microg/dL) in the patients and 100.0 microg/dL (50-150 microg/dL) in the controls. Mean levels of erythrocyte zinc were lower among patients: 37.32 (10.51) microgZn/gHb vs 44.91 (7.67) microgZn/gHb in the controls. Median CRP levels were significantly higher among patients: 4.99 (0.15-34.51) mg/L vs 0.55 (0.17-6.06) mg/L. No differences in translocation marker levels were observed between the groups. CONCLUSIONS: CVID patients had lower levels of retinol and zinc than controls. Since micronutrient deficiency could aggravate their disease and contribute to chronic inflammation, micronutrient status should always be assessed in patients with primary immunodeficiency.
Assuntos
Imunodeficiência de Variável Comum/diagnóstico , Estado Nutricional/imunologia , Vitamina A/sangue , Zinco/metabolismo , Adolescente , Adulto , Proteína C-Reativa/metabolismo , Imunodeficiência de Variável Comum/metabolismo , Eritrócitos/metabolismo , Feminino , Humanos , Receptores de Lipopolissacarídeos/sangue , Masculino , Adulto Jovem , beta Caroteno/sangueRESUMO
Implementing precise techniques in routine diagnosis of chronic granulomatous disease (CGD), which expedite the screening of molecular defects, may be critical for a quick assumption of patient prognosis. This study compared the efficacy of single-strand conformation polymorphism analysis (SSCP) and high-performance liquid chromatography under partially denaturing conditions (dHPLC) for screening mutations in CGD patients. We selected 10 male CGD patients with a clinical history of severe recurrent infections and abnormal respiratory burst function. gDNA, mRNA and cDNA samples were prepared by standard methods. CYBB exons were amplified by PCR and screened by SSCP or dHPLC. Abnormal DNA fragments were sequenced to reveal the nature of the mutations. The SSCP and dHPLC methods showed DNA abnormalities, respectively, in 55% and 100% of the cases. Sequencing of the abnormal DNA samples confirmed mutations in all cases. Four novel mutations in CYBB were identified which were picked up only by the dHPLC screening (c.904 insC, c.141+5 g>t, c.553 T>C, and c.665 A>T). This work highlights the relevance of dHPLC, a sensitive, fast, reliable and cost-effective method for screening mutations in CGD, which in combination with functional assays assessing the phagocyte respiratory burst will contribute to expedite the definitive diagnosis of X-linked CGD, direct treatment, genetic counselling and to have a clear assumption of the prognosis. This strategy is especially suitable for developing countries.
Assuntos
Cromatografia Líquida de Alta Pressão/métodos , Doença Granulomatosa Crônica/genética , Glicoproteínas de Membrana/genética , Mutação de Sentido Incorreto , NADPH Oxidases/genética , Sequência de Aminoácidos , Sequência de Bases , Pré-Escolar , Cromatografia Líquida de Alta Pressão/economia , Análise Custo-Benefício , Humanos , Lactente , Recém-Nascido , Masculino , Glicoproteínas de Membrana/química , Dados de Sequência Molecular , NADPH Oxidase 2 , NADPH Oxidases/química , Fatores de TempoRESUMO
Primary immunodeficiency diseases (PIDD) are associated with significant morbidity and mortality and result in a significant public health burden. This is in part due to the lack of appropriate diagnosis and treatment of these patients. It is critical that governments become aware of this problem and provide necessary resources to reduce this impact on health care systems. Leading physicians in their respective countries must be supported by their own governments in order to implement tools and provide education and thus improve the diagnosis and treatment of PIDD. The Latin American Society of Primary Immunodeficiencies (LASID) has initiated a large number of activities aimed at achieving these goals, including the establishment of a PIDD registry, development of educational programmes and guidelines, and the introduction of a PIDD fellowship programme. These initiatives are positively impacting the identification and appropriate treatment of patients with PIDD in Latin America. Nevertheless, much remains to be done to ensure that every person with PIDD receives proper therapy.
Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/terapia , Congressos como Assunto , Humanos , América Latina , Sociedades MédicasRESUMO
Experts from six Latin American countries met to discuss critical issues and needs in the diagnosis and management of primary immunodeficiency diseases (PIDD). The diagnosis of PIDD is generally made following referral to an immunology centre located in a major city, but many paediatricians and general practitioners are not sufficiently trained to suspect PIDD in the first place. Access to laboratory testing is generally limited, and only some screening tests are typically covered by government health programmes. Specialised diagnostic tests are generally not reimbursed. Access to treatment varies by country reflecting differences in healthcare systems and reimbursement policies. An online PIDD Registry Programme for Latin America has been available since 2009, which will provide information about PIDD epidemiology in the region. Additional collaboration across countries appears feasible in at least two areas: a laboratory network to facilitate the diagnosis of PIDD, and educational programmes to improve PIDD awareness. In total, these collaborations should make it possible to advance the diagnosis and management of PIDD in Latin America.
Assuntos
Gerenciamento Clínico , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/terapia , Alergia e Imunologia/educação , Conhecimentos, Atitudes e Prática em Saúde , Acessibilidade aos Serviços de Saúde , Humanos , Imunoglobulinas Intravenosas/economia , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/economia , Cobertura do Seguro , Reembolso de Seguro de Saúde , América Latina , Sistema de RegistrosRESUMO
The deficiency of complement C5 is rare and frequently associated with severe and recurrent infections, especially caused by Neisseria spp. We observed the absence of component C5 in the serum of 3 siblings from a Brazilian family with history of consanguinity. The patients had suffered from recurrent episodes of meningitis and other less severe infections. Sera from these patients were unable to mediate hemolytic activity either by the classical or alternative pathways and presented extremely low levels of C5 protein (1.3, 0.9 and 1.0 microg/ml-normal range: 45-190 microg/ml). Hemolytic activity could be restored by the addition of purified C5 to deficient serum. Sequencing of sibling C5 cDNA revealed a homozygous 153 bp deletion that corresponds precisely to exon 30. The parents carried the same deletion but only in one allele. Sequencing of the corresponding region in the genomic DNA revealed a C to G substitution within intron 30 and, most significantly, the substitution of GAG(4028) for GAA(4028) at the 3' end of exon 30 which is most likely responsible for skipping of exon 30. The resulting in-frame deletion in the C5 mRNA codes for a mutant C5 protein lacking residues 1289-1339. These residues map to the CUB and C5d domains of the C5 alpha chain. This deletion is expected to produce a non-functional and unstable C5 protein which is more susceptible to degradation.
Assuntos
Complemento C5/química , Complemento C5/genética , Éxons/genética , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/imunologia , Adolescente , Adulto , Indígena Americano ou Nativo do Alasca/genética , Sequência de Bases , Western Blotting , Brasil , Criança , Análise Mutacional de DNA , DNA Complementar/genética , Feminino , Hemólise , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Dados de Sequência Molecular , Linhagem , Estabilidade Proteica , Estrutura Terciária de ProteínaRESUMO
Methicillin-resistant Staphylococcus aureus (MRSA) is an important nosocomial agent of biopolymer-associated infections, and isolates of S. aureus can produce different virulence factors, including potent toxins. The biofilm formation and accumulation by certain international MRSA lineages were analysed, and the toxic shock syndrome-associated genes (tst, seb and sec) among these isolates were assessed. In addition, the presence of lukF-pv (encoding the F-subunit of Panton-Valentine leukocidin (PVL)) was investigated. Most of the MRSA isolates tested were capable of forming biofilm on polystyrene surfaces, but lacked the superantigen toxin genes that were tested. PVL was rarely detected among the hospital isolates analysed.
Assuntos
Biofilmes/crescimento & desenvolvimento , Infecções Comunitárias Adquiridas/microbiologia , Infecção Hospitalar/microbiologia , Staphylococcus aureus Resistente à Meticilina/genética , Staphylococcus aureus Resistente à Meticilina/fisiologia , Infecções Estafilocócicas/microbiologia , Fatores de Virulência/genética , Proteínas de Bactérias/genética , Toxinas Bacterianas/genética , Enterotoxinas/genética , Humanos , Leucocidinas/genética , Staphylococcus aureus Resistente à Meticilina/isolamento & purificação , Poliestirenos , Superantígenos/genéticaRESUMO
IPEX is a rare X-linked syndrome, with immune dysfunction, polyendocrinopathy and enteropathy. We describe an infant who died at the age of 11 months after developing eczema, severe diarrhoea, diabetes, hypothyroidism, thrombocytopenia and four episodes of septicaemia. Immunophenotyping of peripheral blood at 8 months revealed normal CD3+ T, CD4+ T and CD8+ T cell numbers, with low NK and B cells. CD4+ and CD8+ T lymphocytes showed remarkably low numbers and percentages of naïve cells and high numbers of memory CD4 and CD8 cells. At autopsy, an intense depletion of immune cells in thymus, spleen and lymph nodes was observed. No Hassall's corpuscles were found in thymus. Lymphocytic pancreatitis and intense villous atrophy with mucosal lymphocytic infiltration in small bowel were also seen. FOXP3 gene studies revealed a: C-->G substitution 3 bp upstream of exon 10, which prevents splicing between exons 9 and 10, likely resulting in a functionally altered or deficient protein. Florid clinical findings are usually observed in association of forkhead DNA-binding domain mutations. The intense depletion of naïve T cells we report suggest that depletion of immune cells might take place due to uncontrolled activation due to the absence of regulatory T cells.
Assuntos
Fatores de Transcrição Forkhead/genética , Linfócitos T/imunologia , Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X/genética , Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X/imunologia , Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X/patologia , Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD8-Positivos/imunologia , Humanos , Memória Imunológica , Recém-Nascido , Masculino , MutaçãoRESUMO
BACKGROUND: Several primary immune deficiency disorders are associated with autoimmunity and malignancy, suggesting a state of immune dysregulation. The concept of immune dysregulation as a direct cause of autoimmunity in primary immune deficiency disorders (PIDDs) has been strengthened by the recent discovery of distinct clinical entities linked to single-gene defects resulting in multiple autoimmune phenomena including immune dysregulation, polyendocrinopathy, enteropathy and X-linked (IPEX) syndrome, and autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) syndrome. CONCLUSION: Reviewing recent advances in our understanding of the small subgroup of PIDD patients with defined causes for autoimmunity may lead to the development of more effective treatment strategies for idiopathic human autoimmune diseases.
Assuntos
Candida albicans , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/fisiopatologia , Poliendocrinopatias Autoimunes/genética , Poliendocrinopatias Autoimunes/fisiopatologia , Animais , Autoantígenos/imunologia , Autoimunidade/genética , Candidíase Mucocutânea Crônica/imunologia , Suscetibilidade a Doenças/imunologia , Suscetibilidade a Doenças/microbiologia , Fatores de Transcrição Forkhead/genética , Fatores de Transcrição Forkhead/imunologia , Fatores de Transcrição Forkhead/metabolismo , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/microbiologia , Camundongos , Poliendocrinopatias Autoimunes/complicações , Poliendocrinopatias Autoimunes/microbiologia , Polimorfismo Genético , Tolerância a Antígenos Próprios , Linfócitos T Reguladores/citologia , Linfócitos T Reguladores/metabolismo , Linfócitos T Reguladores/fisiologia , Fatores de Transcrição/genética , Fatores de Transcrição/imunologia , Fatores de Transcrição/metabolismo , Proteína AIRERESUMO
The majority of children with Down syndrome (DS) tend to have frequent bacterial infections including recurrent respiratory infections. Our objective was to evaluate the production of antibodies to pneumococcal polysaccharide antigens after active immunization in DS subjects. IgG antibodies to pneumococcal serotypes (1, 3, 6B, 9V, and 14) were measured before and 6 weeks after immunization with a 23-valent pneumococcal vaccine (Pneumo23, Pasteur-Merrieux) in 6- to 13-year-old DS children (N = 17) and in aged-matched normal controls (N = 30). An adequate response was defined as a 4-fold increase over baseline or a post-immunization level of specific pneumococcal serotype antibody > or = 1.3 microg/mL. After immunization, all DS children had an increase in post-immunization levels against all serotypes analyzed. A 4-fold or more increase was observed in all DS children concerning serotypes 1 and 14, in 90% of subjects for serotypes 3 and 9V, and in 65% for serotype 6B. Regarding this increase, 8 of the 17 DS children had an adequate response to all serotypes analyzed, 8/17 patients to 4 serotypes and 1/17 to 3 serotypes. However, when we compared post-immunization levels between DS children and controls, we observed lower levels in the former group (P < 0.05) for all serotypes except serotype 3. We conclude that pneumococcal polysaccharide immunization could be beneficial for these DS children.
Assuntos
Anticorpos Antibacterianos/imunologia , Síndrome de Down/imunologia , Imunoglobulina G/imunologia , Infecções Pneumocócicas/prevenção & controle , Vacinas Pneumocócicas/imunologia , Adolescente , Anticorpos Antibacterianos/sangue , Estudos de Casos e Controles , Criança , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Imunoglobulina G/sangue , MasculinoRESUMO
The majority of children with Down syndrome (DS) tend to have frequent bacterial infections including recurrent respiratory infections. Our objective was to evaluate the production of antibodies to pneumococcal polysaccharide antigens after active immunization in DS subjects. IgG antibodies to pneumococcal serotypes (1, 3, 6B, 9V, and 14) were measured before and 6 weeks after immunization with a 23-valent pneumococcal vaccine (Pneumo23®, Pasteur-Merrieux) in 6- to 13-year-old DS children (N = 17) and in aged-matched normal controls (N = 30). An adequate response was defined as a 4-fold increase over baseline or a post-immunization level of specific pneumococcal serotype antibody > or = 1.3 æg/mL. After immunization, all DS children had an increase in post-immunization levels against all serotypes analyzed. A 4-fold or more increase was observed in all DS children concerning serotypes 1 and 14, in 90 percent of subjects for serotypes 3 and 9V, and in 65 percent for serotype 6B. Regarding this increase, 8 of the 17 DS children had an adequate response to all serotypes analyzed, 8/17 patients to 4 serotypes and 1/17 to 3 serotypes. However, when we compared post-immunization levels between DS children and controls, we observed lower levels in the former group (P < 0.05) for all serotypes except serotype 3. We conclude that pneumococcal polysaccharide immunization could be beneficial for these DS children.
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Anticorpos Antibacterianos/imunologia , Síndrome de Down/imunologia , Imunoglobulina G/imunologia , Infecções Pneumocócicas/prevenção & controle , Vacinas Pneumocócicas/imunologia , Anticorpos Antibacterianos/sangue , Estudos de Casos e Controles , Ensaio de Imunoadsorção Enzimática , Imunoglobulina G/sangueRESUMO
OBJECTIVE: To study colonization with methicillin-resistant Staphylococcus aureus in a home care service during a 4-month period. DESIGN: Prospective study. SETTING: A home care service located in Rio de Janeiro, Brazil. PARTICIPANTS: Patients admitted to the home care service during this period, their household contacts, and health care workers (HCWs). METHODS: Swab specimens from the anterior nares were collected from each patient in the 3 groups at admission. Screening was repeated every 7 days. MRSA was detected using a mecA probe, and the clonality of isolates was evaluated by molecular methods, primarily pulsed-field gel electrophoresis. RESULTS: Of the 59 study patients, 9 (15.3%) had MRSA colonization detected; these cases of colonization were classified as imported. Only 1 (2.0%) of the 50 patients not colonized at admission became an MRSA carrier (this case of colonization was classified as autochthonous). Two (0.9%) of 224 household contacts and 16 (7.4%) of 217 HCWs had MRSA colonization. Cross-transmission from patient to HCW could be clearly demonstrated in 8 cases. The great majority of MRSA isolates belonged to the Brazilian epidemic clone. CONCLUSIONS: MRSA colonization was common in the home care service analyzed. The fact that the majority of MRSA isolates obtained were primarily of nosocomial origin (and belonged to the so-called Brazilian epidemic clone) substantiated our findings that all but 1 patient had already been colonized before admission to the home care service. Only cross-transmission from patients to healthcare workers could be verified. On the basis of these results, we believe that a control program built on admission screening of patients for detection of MRSA carriage could contribute to the overall quality of care.
Assuntos
Serviços de Assistência Domiciliar , Resistência a Meticilina , Infecções Estafilocócicas/epidemiologia , Staphylococcus aureus/genética , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Portador Sadio/epidemiologia , Infecção Hospitalar/epidemiologia , Feminino , Humanos , Masculino , Estudos Prospectivos , Infecções Estafilocócicas/microbiologia , Staphylococcus aureus/isolamento & purificaçãoRESUMO
Twenty isolates of group B streptococcus (GBS) were recovered from the milk of cows with bovine mastitis on three farms located in the south and south-east of Brazil between 1987 and 1988. These isolates were characterised by molecular methods and compared with a collection of 103 human GBS isolates from colonised and infected patients in the same region between 1980 and 2003. Some of the bovine isolates shared identical or similar pulsed-field gel electrophoresis (PFGE) patterns with a PFGE clone of human GBS type V. In addition, these bovine and human isolates also possessed the same ribotype. Multilocus sequence typing (MLST) of representative isolates confirmed the genetic relationship between the human and bovine GBS isolates with identical PFGE patterns, which clustered in the same ST-26 clonal complex. These data support the hypothesis that some bovine GBS strains are related closely to human isolates and may infect humans, or vice versa. Further comparative genomic analyses of GBS isolates from bovine and human origins are required to investigate this hypothesis further.