MAGDA MARIA SALES CARNEIRO SAMPAIO

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Departamento de Pediatria, Faculdade de Medicina - Docente
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder

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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
  • article 7 Citação(ões) na Scopus
    Age-related transcriptional modules and TF-miRNA-mRNA interactions in neonatal and infant human thymus
    (2020) BERTONHA, Fernanda Bernardi; BANDO, Silvia Yumi; FERREIRA, Leandro Rodrigues; CHACCUR, Paulo; VINHAS, Christiana; ZERBINI, Maria Claudia Nogueira; CARNEIRO-SAMPAIO, Magda Maria; MOREIRA-FILHO, Carlos Alberto
    The human thymus suffers a transient neonatal involution, recovers and then starts a process of decline between the 1st and 2nd years of life. Age-related morphological changes in thymus were extensively investigated, but the genomic mechanisms underlying this process remain largely unknown. Through Weighted Gene Co-expression Network Analysis (WGCNA) and TF-miRNA-mRNA integrative analysis we studied the transcriptome of neonate and infant thymic tissues grouped by age: 0-30 days (A); 31 days-6 months (B); 7-12 months (C); 13-18 months (D); 19-31 months (E). Age-related transcriptional modules, hubs and high gene significance (HGS) genes were identified, as well as TF-miRNA-hub/HGS co-expression correlations. Three transcriptional modules were correlated with A and/or E groups. Hubs were mostly related to cellular/metabolic processes; few were differentially expressed (DE) or related to T-cell development. Inversely, HGS genes in groups A and E were mostly DE. In A (neonate) one third of the hyper-expressed HGS genes were related to T-cell development, against one-twentieth in E, what may correlate with the early neonatal depletion and recovery of thymic T-cell populations. This genomic mechanism is tightly regulated by TF-miRNA-hub/HGS interactions that differentially govern cellular and molecular processes involved in the functioning of the neonate thymus and in the beginning of thymic decline.
  • conferenceObject
    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.
  • article 0 Citação(ões) na Scopus
    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 Sales
    Background: 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.
  • article 1 Citação(ões) na Scopus
    Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center
    (2022) GRASSI, Marcilia Sierro; MONTENEGRO, Marilia; ZANARDO, Evelin Aline; PASTORINO, Antonio Carlos; DORNA, Mayra Barros; KIM, Chong; JATENE, Marcelo; MIURA, Nana; KULIKOWSKI, Leslie; CARNEIRO-SAMPAIO, Magda
    Background: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.
  • article 94 Citação(ões) na Scopus
    A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: Description of two unrelated cases from Brazil
    (2011) JESUS, Adriana A.; OSMAN, Mazen; SILVA, Clovis A.; KIM, Peter W.; Tuyet-Hang Pham; GADINA, Massimo; YANG, Barbara; BERTOLA, Debora R.; CARNEIRO-SAMPAIO, Magda; FERGUSON, Polly J.; RENSHAW, Blair R.; SCHOOLEY, Ken; BROWN, Michael; AL-DOSARI, Asma; AL-ALAMI, Jamil; SIMS, John E.; GOLDBACH-MANSKY, Raphaela; EL-SHANTI, Hatem
    Objective Monogenic autoinflammatory diseases are disorders of Mendelian inheritance that are characterized by mutations in genes that regulate innate immunity and whose typical features are systemic inflammation without high-titer autoantibodies or antigen-specific T cells. Skin and bone inflammation in the newborn period have been described in 3 of these autoinflammatory disorders: neonatal-onset multisystem inflammatory disease, Majeed syndrome, and deficiency of interleukin-1 (IL-1) receptor antagonist (DIRA) syndrome. This study was undertaken to present the characteristics of the DIRA syndrome in 2 cases from Brazil, and describe a novel mutation in IL1RN. Methods. Two unrelated Brazilian patients were evaluated for the clinical signs and symptoms of these 3 disorders, and peripheral blood samples were assessed for mutations in NLRP3, LPIN2, and IL1RN by DNA resequencing analysis. A mutation in IL1RN that encodes a mutant protein was identified, and the expression and function of this mutant protein were compared to those of the wild-type protein. Results. Both patients presented with pustular dermatitis resembling generalized pustular psoriasis, recurrent multifocal aseptic osteomyelitis, and elevation in the levels of acute-phase reactants, all of which are features most consistent with the DIRA syndrome. Chronic lung disease was observed in 1 of the patients, and jugular venous thrombosis was observed in the other patient. Both patients showed a partial response to corticosteroid therapy, and 1 patient experienced an initial improvement of dermatitis with the use of acitretin. Both patients were homozygous for a novel 15-bp (in-frame) deletion on the IL1RN gene. The mutated protein expressed in vitro had no affinity with the IL-1 receptor, and stimulation of the patients' cells with recombinant human IL-1 alpha or IL-1 alpha led to oversecretion of proinflammatory cytokines, similar to the findings obtained in previously reported patients. Conclusion. The presence of the same homozygous novel mutation in IL1RN in 2 unrelated Brazilian patients suggests that this genetic variant may be a founder mutation that has been introduced in the Brazilian population.
  • article 2 Citação(ões) na Scopus
    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 Neres
    This 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