MAGDA MARIA SALES CARNEIRO SAMPAIO
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Pediatria, Faculdade de Medicina - Docente
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
81 resultados
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conferenceObject Novel Mutations in MVK Associated with Hyperimmunoglobulinemia D with Periodic Fever Syndrome Phenotype(2014) VASCONCELOS, D. Moraes; FUJIHIRA, E.; OLIVEIRA, J. B.; JESUS, A. A.; SILVA, C.; CASTRO, A. P. M.; DORNA, M. B.; WATANABE, L.; PONTILLO, A.; CHUFFI-BARROS, N.; JACOB, C. M. A.; CARNEIRO-SAMPAIO, M. M. S.; DUARTE, A. J.conferenceObject The Extended Clinical Phenotype of 36 Patients with Chronic Mucocutaneous Candidiasis Due to Gain-of-Function Mutations in STAT1(2014) FREDE, N.; DEPNER, M.; RAABE, J.; DOFFINGER, R.; GKRANIA-KLOTSAS, E.; KUMARARATNE, D.; ATKINSON, T. P.; SCHROEDER, H. W.; NIEHUES, T.; DUECKERS, G.; PUCK, J.; EISENSTEIN, E. M.; STRAY-PEDERSEN, A.; BAUMANN, U.; SCHMIDT, R. E.; FRANCO, J. L.; ORREGO, J. C.; BEN-SHOSHAN, M.; MCCUSKER, C.; JACOB, C. M.; CARNEIRO-SAMPAIO, M.; DEVLIN, L. A.; EDGAR, J. D.; HENDERSON, P.; DYRSO, T.; SENEVIRATNE, S. L.; WANDERS, J.; STAUSS, H.; MEYTS, I.; MOENS, L.; JESENAK, M.; GRIMBACHER, B.conferenceObject TCR V beta Repertoire Diversity in Healthy Individuals of Different Age Groups(2013) ARANTES, J. M.; SANTOS, Nathalia Moreira; GRASSI, Marcilia Sierro; TANNURI, Ana Cristina Aoun; GUILHERME, Luisa; CARNEIRO-SAMPAIO, Magda- TLR-2 and TLR-4 mediated responses in monocytes from preterm and term newborns are distinct from those of adults(2012) SILVEIRA-LESSA, A. L.; QUINELLO, C.; CIANCIARULLO, M. A.; CECCON, M. E. J. R.; CARNEIRO-SAMPAIO, M.; PALMEIRA, P.
- Microbiological profile in chronic granutomatous disease patients in a single Brazilian primary immunodeficiencies center(2021) OLIVEIRA, Aimee Filippini Bifulco; PASTORINO, Antonio Carlos; DORNA, Mayra de Barros; CASTRO, Ana Paula Beltran Moschione; PEGLER, Jose Roberto Mendes; MORGENSTERN, Beni; CARNEIRO-SAMPAIO, Magda Maria SalesBackground: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of the lungs, skin, lymph nodes, and liver are the hallmark of CGD with frequent initial manifestations of the disease. The aim of the present study was to describe the sites of infections and their causative agents in 38 CGD pediatric patients. Methods: This was a retrospective single-center cohort study comprising CGD patients, and followed for over last 40 years at the Allergy and Immunology Unit of a tertiary hospital in Sao Paulo, Brazil. Sites of infections and their causative agents were described. Results: A total of 38 patients were included (36 males and 2 females). Median age at the onset of symptoms was 45 days (7 days-7 years) and that at the time of diagnosis was 23 months (1 month-12 years); 31.6% of the parents reported death of relatives during childhood and 21% (8 cases) had another mate family member with CDG. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%). In all, 188 cultures were positive (85.6% for bacteria and 14.4% for fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in 0.9% (only in 1 patient) of cultures. Conclusion: Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents in this cohort. M. tuberculosis should be considered in endemic areas. Detection of infectious agents drives to find adequate treatment and benefits the evolution of patients with CGD. (C) 2021 Codon Publications.
- Minimal concentration of human IgM and IgG antibodies necessary to protect mice from challenges with live O6 Escherichia coli(2011) MASSIRONI, Silvia Maria Gomes; ARSLANIAN, Christina; CARNEIRO-SAMPAIO, Magda Maria Sales; PONTES, Gerlandia NeresThis work evaluated the ability of human anti-lipopolysaccharide O6 IgM and IgG antibodies to protect mice challenged with Escherichia coli serotype O6 : K2ac. Purified IgM-effluent, purified IgG, pools of normal human serum (NHS), or control group were injected into mice 18 h before challenges with O6 E. coli. Interleukin 6 and tumor necrosis factor alpha were quantified in the sera of test and control groups. All mice receiving purified IgM-effluent (66.6 mg L(-1) of antilipopolysaccharide O6 IgM antibodies) and NHS survived. Purified IgG (1.1 mg L(-1) of anti-lipopolysaccharide O6 IgG antibodies) protected 87.5% of the animals. The control group showed no protective ability. The minimal concentration of anti-lipopolysaccharide O6 IgM antibodies, able to protect 50% of the animals was 33.3 mg L(-1) of purified IgM-effluent, whereas purified IgG was able to protect 50% of the animals with only 1.1 mg L(-1) of anti-lipopolysaccharide O6 IgG antibodies. Serum from animals pretreated with purified IgM-effluent and purified IgG before challenges with lipopolysaccharide O6 did not have detectable pro-inflammatory cytokines. Hepatocytes of the control group were completely invaded by bacteria, whereas none was found in animals pretreated with purified IgM-effluent and purified IgG. Higher concentrations of anti-lipopolysaccharide O6 IgM antibodies as compared to anti-lipopolysaccharide O6 IgG antibodies were needed to protect mice from challenges with E. coli O6 serotype.
conferenceObject TRISOMY 21-DRIVEN GENE EXPRESSION DYSREGULATION IN HUMAN THYMUS: CONVERGING GENOMIC AND EPIGENOMIC MECHANISMS(2016) MOREIRA-FILHO, Carlos Alberto; BANDO, Silvia Yumi; BERTONHA, Fernanda Bernardi; SILVA, Filipi Nascimento; COSTA, Luciano da Fontoura; FEREIRA, Leandro Rodrigues; CARNEIRO-SAMPAIO, Magda- Common Variable Immunodeficiency Associated with Hepatosplenic T-Cell Lymphoma Mimicking Juvenile Systemic Lupus Erythematosus(2011) JESUS, A. A.; JACOB, C. M. A.; SILVA, C. A.; DORNA, M.; PASTORINO, A. C.; CARNEIRO-SAMPAIO, M.Common variable immunodeficiency (CVID) is a heterogeneous disorder with susceptibility to infections, autoimmune manifestations, and cancer. To our knowledge, CIVD with T-cell lymphoma mimicking juvenile systemic lupus erythematosus (JSLE) was not described in the literature, and one case was reported herein. An 8-year-old female was admitted in our Pediatric Immunology Unit with a clinical history of hypogammaglobulinemia, recurrent upper respiratory infections, and pneumonias. She had a marked decrease of three serum immunoglobulin isotypes, and the diagnosis of CVID was established. At the age of 17 years, she presented with oral ulceration, nonerosive arthritis, nephritis, serositis, cytopenia, positive antiphospholipid antibodies, and positive antinuclear antibody fulfilling the American College of Rheumatology (ACR) criteria for SLE. She was treated with intravenous methylprednisolone for three consecutive days, and intravenous immunoglobulin, and maintenance therapy of chloroquine, azathioprine and prednisone 40mg/day. Two months later, she died of septic shock secondary to acute pneumonia. The necropsy showed hepatosplenic T-cell lymphoma with diffuse involvement of bone marrow, spleen, liver, and lungs. The lymphoma cells were positive for CD3 immunostaining and negative for CD20 and lysozyme. In conclusion, the association of CVID and hepatosplenic T-cell lymphoma may simulate JSLE diagnosis.
- The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1(2016) DEPNER, Mark; FUCHS, Sebastian; RAABE, Jan; FREDE, Natalie; GLOCKER, Cristina; DOFFINGER, Rainer; GKRANIA-KLOTSAS, Effrossyni; KUMARARATNE, Dinakantha; ATKINSON, T. Prescott; SCHROEDER JR., Harry W.; NIEHUES, Tim; DUECKERS, Gregor; STRAY-PEDERSEN, Asbjorg; BAUMANN, Ulrich; SCHMIDT, Reinhold; FRANCO, Jose L.; ORREGO, Julio; BEN-SHOSHAN, Moshe; MCCUSKER, Christine; JACOB, Cristina Miuki Abe; CARNEIRO-SAMPAIO, Magda; DEVLIN, Lisa A.; EDGAR, J. David M.; HENDERSON, Paul; RUSSELL, Richard K.; SKYTTE, Anne-Bine; SENEVIRATNE, Suranjith L.; WANDERS, Jennifer; STAUSS, Hans; MEYTS, Isabelle; MOENS, Leen; JESENAK, Milos; KOBBE, Robin; BORTE, Stephan; BORTE, Michael; WRIGHT, Dowain A.; HAGIN, David; TORGERSON, Troy R.; GRIMBACHER, BodoPurpose Gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune dysregulation and immunodeficiency. The latter is often characterized by the susceptibility to recurrent Candida infections, resulting in the clinical picture of chronic mucocutaneous candidiasis (CMC). This study aims to assess the frequency of GOF STAT1 mutations in a large international cohort of CMC patients. Methods STAT1 was sequenced in genomic DNA from 57 CMC patients and 35 healthy family members. The functional relevance of nine different STAT1 variants was shown by flow cytometric analysis of STAT1 phosphorylation in patients' peripheral blood cells (PBMC) after stimulation with interferon (IFN)-alpha, IFN-gamma or interleukin-27 respectively. Extended clinical data sets were collected and summarized for 26 patients. Results Heterozygous mutations within STAT1 were identified in 35 of 57 CMC patients (61 %). Out of 39 familial cases from 11 families, 26 patients (67 %) from 9 families and out of 18 sporadic cases, 9 patients (50 %) were shown to have heterozygous mutations within STAT1. Thirteen distinct STAT1 mutations are reported in this paper. Eight of these mutations are known to cause CMC (p.M202V, p.A267V, p.R274W, p.R274Q, p.T385M, p.K388E, p.N397D, and p.F404Y). However, five STAT1 variants (p.F172L, p.Y287D, p.P293S, p.T385K and p.S466R) have not been reported before in CMC patients. Conclusion STAT1 mutations are frequently observed in patients suffering from CMC. Thus, sequence analysis of STAT1 in CMC patients is advised. Measurement of IFN- or IL-induced STAT1 phosphorylation in PBMC provides a fast and reliable diagnostic tool and should be carried out in addition to genetic testing.
- Transplacental Total IgG Transfer in Twin Pregnancies(2014) STACH, Sonia C. L.; BRIZOT, Maria de L.; LIAO, Adolfo W.; FRANCISCO, Rossana P. V.; PALMEIRA, Patricia; CARNEIRO-SAMPAIO, Magda; ZUGAIB, MarceloProblemIn twin pregnancies, factors that influence total umbilical cord IgG concentration and IgG transfer ratio are not well known. MethodBlood samples were prospectively collected from 57 twin pregnancies. Stepwise multivariate regression analysis was used to evaluate the association between total IgG levels in the umbilical cord blood and IgG transfer ratio according to serum IgG concentration, pregnancy chorionicity, the presence of abnormal umbilical artery pulsatility index, intrauterine growth restriction, gestational age at delivery (GAD), birthweight, and placental weight. ResultsUmbilical cord IgG concentration showed a positive correlation with serum IgG concentration and GAD; levels were significantly lower in monochorionic compared with dichorionic pregnancies. IgG transfer ratio also increased with GAD but was inversely correlated with serum IgG concentration levels. ConclusionIn twin pregnancies, besides serum IgG concentration and GAD, chorionicity also influences umbilical cord IgG concentration. Monochorionic twins have lower IgG cord concentration than dichorionic twins.