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
11 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 11
- Placental Transfer of IgG Antibodies Specific to Klebsiella and Pseudomonas LPS and to Group B Streptococcus in Twin Pregnancies(2015) STACH, S. C. L.; BRIZOT, M. L.; LIAO, A. W.; PALMEIRA, P.; FRANCISCO, R. P. V.; CARNEIRO-SAMPAIO, M. M. S.; ZUGAIB, M.Group B Streptococcus (GBS), Klebsiella spp. and Pseudomonas spp. are important aetiological agents of neonatal infections in Brazil. There is a lack of data in the literature regarding the specific transport of immunoglobulin G (IgG) against these pathogens in multiple pregnancies. Maternal (n=55) and umbilical cord (n=110) blood samples were prospectively collected at birth from 55 twin pregnancies. The factors associated with cord levels and transfer ratios of IgG against GBS, Klebsiella and Pseudomonas were examined. The IgG umbilical cord serum levels specific to GBS, Klebsiella LPS and Pseudomonas LPS were significantly associated with maternal-specific IgG concentrations and the presence of diabetes. The anti-Klebsiella IgG cord serum concentrations were also related to birthweight and the presence of hypertension. The transfer ratios against GBS and Pseudomonas LPS were associated with maternal-specific IgG concentrations. The transfer ratios for GBS and Pseudomonas LPS were associated with gestational age at delivery and the presence of diabetes, respectively. None of the examined parameters were related to Klebsiella LPS transfer ratios. We conclude that in twin pregnancies, specific maternal IgG serum concentrations and diabetes were the parameters associated with umbilical cord serum IgG concentrations reactive with the three pathogens investigated. All the other parameters investigated showed different associations with neonatal-specific IgG levels according to the antigen studied. There was no uniformity of the investigated parameters regarding association with placental IgG transfer ratios against the GBS, Pseudomonas LPS and Klebsiella LPS.
- Inflammasome polymorphisms in juvenile systemic lupus erythematosus(2015) PONTILLO, Alessandra; REIS, Edione C.; LIPHAUS, Bernadete L.; SILVA, Clovis A.; CARNEIRO-SAMPAIO, MagdaInflammasome is the cytoplasmic complex responsible for pro-IL1 cleavage and secretion of IL-1. Recently our group reported the first association between polymorphisms in the inflammasome receptor NLRP1 and adult-onset systemic lupus erythematosus (SLE) di per se and especially in SLE-associated renal disease, suggesting the involvement of NLRP1-inflammasome in the immune dysregulation characteristic of SLE patients. Considering that juvenile-onset SLE (JSLE) is more severe than adult SLE, and that the genetic background plays a major role in the early development of autoimmune diseases, we analysed selected polymorphisms in inflammasome genes (NLRP1, NLRP3, CARD8, IL1B, TNFAIP3) of children and adolescents with JSLE (n=90) and in healthy controls (n=144). A single polymorphism in IL1B, and not NLRP1, gene resulted in association with JSLE, suggesting that IL-1 is involved in the pathogenesis of SLE, but different genes could play specific role in adult- or early-onset disease.
conferenceObject MODULAR TRANSCRIPTIONAL REPERTOIRE AND microRNA-TARGET ANALYSES IN THYMIC TISSUE OF DOWN SYNDROME INFANTS(2015) MOREIRA-FILHO, Carlos Alberto; BANDO, Silvia Yumi; BERTONHA, Fernanda Bernardi; SILVA, Filipi Nascimento; COSTA, Luciano da Fontoura; FEREIRA, Leandro Rodrigues; CARNEIRO-SAMPAIO, Magda- Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus(2015) LIPHAUS, Bernadete L.; UMETSU, Natalia; JESUS, Adriana A.; BANDO, Silvia Y.; SILVA, Clovis A.; CARNEIRO-SAMPAIO, MagdaOBJECTIVE: To perform a molecular characterization of the C1q, C2 and C4 genes in patients with juvenile systemic lupus erythematosus. METHODS: Patient 1 (P1) had undetectable C1q, patient 2 (P2) and patient 3 (P3) had decreased C2 and patient 4 (P4) had decreased C4 levels. All exons and non-coding regions of the C1q and C2 genes were sequenced. Mononuclear cells were cultured and stimulated with interferon gamma to evaluate C1q, C2 and C4 mRNA expression by quantitative real-time polymerase chain reaction. RESULTS: C1q sequencing revealed heterozygous silent mutations in the A (c.276 A>G Gly) and C (c.126 C>T Pro) chains, as well as a homozygous single-base change in the 39 non-coding region of the B chain (c*78 A>G). C1qA mRNA expression without interferon was decreased compared with that of healthy controls (p<0.05) and was decreased after stimulation compared with that of non-treated cells. C1qB mRNA expression was decreased compared with that of controls and did not change with stimulation. C1qC mRNA expression was increased compared with that of controls and was even higher after stimulation. P2 and P3 had Type I C2 deficiency (heterozygous 28 bp deletion at exon 6). The C2 mRNA expression in P3 was 23 times lower compared with that of controls and did not change after stimulation. The C4B mRNA expression of P4 was decreased compared with that of controls and increased after stimulation. CONCLUSIONS: Silent mutations and single-base changes in the 3' non-coding regions may modify mRNA transcription and C1q production. Type I C2 deficiency should be evaluated in JSLE patients with decreased C2 serum levels. Further studies are needed to clarify the role of decreased C4B mRNA expression in JSLE pathogenesis.
conferenceObject Features of 847 Childhood-Onset Systemic Lupus Erythematousus Patients in Three Age-Related Groups at Diagnosis: A Brazilian Multicenter Study(2015) SILVA, Clovis A.; SR., Roberta C. Gomes; SILVA, Marco F.; KOZU, Katia T.; BONFA, Eloisa; PEREIRA, Rosa M. R.; TERRERI, Maria Teresa; SR., Claudia S. Magalhaes; SR., Silvana B. Sacchetti; SR., Roberto Marini; FRAGA, Melissa; SR., Luciana M. Carvalho; BARBOSA, Cassia M.; SR., Magda Carneiro-Sampaio- Autoimmune diseases and autoantibodies in pediatric patients and their first-degree relatives with immunoglobulin A deficiency(2015) FAHL, Kristine; SILVA, Clovis A.; PASTORINO, Antonio C.; CARNEIRO-SAMPAIO, Magda; JACOB, Cristina M. A.Introduction: Clinical manifestations of Immunoglobulin A Deficiency (IgAD) include recurrent infections, atopy and autoimmune diseases. However, to our knowledge, the concomitant evaluations of autoimmune diseases and auto antibodies in a cohort of IgAD patients with current age >10 years and their relatives have not been assessed. Objectives: To evaluate autoimmune diseases and the presence of auto antibodies in IgAD patients and their first-degree relatives. Methods: A cross-sectional study was performed in 34 IgAD patients (current age >10 years) and their first-degree relatives. All of them were followed at a tertiary Brazilian primary immunodeficiency center: 27 children/adolescents and 7 of their first-degree relatives with a late diagnosis of IgAD. Autoimmune diseases and autoantibodies (antinuclear antibodies, rheumatoid factor, and anti-thyroglobulin, anti-thyroperoxidase and IgA class anti-endomysial antibodies) were also assessed. Results: Autoimmune diseases (n =14) and/or autoantibodies (n=10, four of them with isolated autoantibodies) were observed in 18/34 (53%) of the patients and their relatives. The most common autoimmune diseases found were thyroiditis (18%), chronic arthritis (12%) and celiac disease (6%). The most frequent autoantibodies were antinuclear antibodies (2%), anti-thyroglobulin and/or anti-thyroperoxidase (24%). No significant differences were observed in the female gender, age at diagnosis and current age in IgAD patients with and without autoimmune diseases and/or presence of auto antibodies (p >0.05). The frequencies of primary immunodeficiencies in family, autoimmunity in family, atopy and recurrent infections were similar in both groups (p >0.05). Conclusion: Autoimmune diseases and auto antibodies were observed in IgAD patients during follow-up, reinforcing the necessity of a rigorous and continuous follow-up during adolescence and adulthood.
- Early-onset autoimmune disease as a manifestation of primary immunodeficiency(2015) CARNEIRO-SAMPAIO, Magda; COUTINHO, AntonioAutoimmune disorders (AID) have been increasingly observed in association with primary immunodeficiencies (PIDs). Here, we discuss the interface between PID and AID, focusing on autoimmune manifestations early in life, which can be diagnostic clues for underlying PIDs. Inflammatory bowel disease in infants and children has been associated with IL-10 and IL-10R deficiencies, chronic granulomatous disease, immunedysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IPEX), autoinflammatory disorders, and others. Some PIDs have been identified as underlying defects in juvenile systemic lupus erythematosus: C1g-, IgA-, IgM deficiencies, alterations of the IFN-alpha pathway (in Aicardi-Goutieres syndrome due to TREX1 mutation). IPEX (due to FOXP3 mutation leading to Treg cell deficiency), usually appearing in the first months of life, was recently observed in miscarried fetuses with hydrops who presented with CD3+ infiltrating lymphocytes in the pancreas. Hemophagocytic lymphohistiocytosis due to perforin deficiency was also identified as a cause of fetal hydrops. In conclusion, PID should be suspected in any infant with signs of autoimmunity after excluding transferred maternal effects, or in children with multiple and/or severe AID.
conferenceObject ACTIVE SEARCH FOR 22q11.2 DELETION IN INFANTS WITH CONGENITAL HEART DISEASE UNDERGOING CORRECTIVE SURGERY: PRELIMINARY RESULTS(2015) GRASSI, Marcilia Sierro; KULIKOWSKI, Leslie Domenici; JACOB, Cristina Miuki Abe; DUTRA, Roberta Lelis; ZANARDO, Evelin; CECCON, Maria Esther Jurfest Rivero; KREBS, Vera Lucia Jornada; IKARI, Nana Miura; JATENE, Marcelo Biscegli; CARVALHO, Werther Brunow; CARNEIRO-SAMPAIO, Magda- SOLUBLE TAM (TYRO3, AXL, MER) RECEPTORS AND GAS6 LIGAND IN PATIENTS WITH JUVENILE SYSTEMIC LUPUS ERYTHEMATOSUS (JSLE)(2015) LIPHAUS, B. L.; PALMEIRA, P.; LIMA, L.; SILVA, C. A.; GOLDENSTEIN-SCHAINBERG, C.; CARNEIRO-SAMPAIO, M.
- Fetal-onset IPEX: Report of two families and review of literature(2015) XAVIER-DA-SILVA, Mariana Moraes; MOREIRA-FILHO, Carlos A.; SUZUKI, Edson; PATRICIO, Francy; COUTINHO, Antonio; COUTINHO, Antonio; CARNEIRO-SAMPAIO, MagdaEarly-life autoimmunity is an IPEX characteristic, however intrauterine forms had not yet been described. Here, two unrelated families with clear evidence of fetal-onset IPEX are reported. One had 5 miscarriages of males in two generations, and a newborn presenting type-1 diabetes mellitus immediately after birth, diarrhea, thrombocytopenia, eczematous dermatitis, eosinophilia, high IgE levels and autoantibodies to pancreatic islet antigens at 4-days-old. Maternal serology was negative. He presented a FOXP3 mutation, c.1189C>T, p.Arg397Trp, previously described only in another family with IPEX at birth. The second family had several miscarriages of males in three consecutive generations and a novel FOXP3 c.319_320delTC mutation was observed in two miscarried monochorionic twin male fetuses. These twins died at 21 weeks of gestation due to hydrops, and CD3+ infiltrating lymphocytes were found in their pancreas. We demonstrate that: i) IPEX may develop in fetal life; and ii) c.1189C>T and c.319_320delTC mutations are associated with early-onset phenotype.