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
15 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 15
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- IPEX syndrome with Dent's disease manifestations - Case Report(2013) KOSTIC, Dusan; BRASIL, Saulo Couto; JACOB, Cristina Miuki Abe; SAMPAIO, Magda Carneiro; KOCH, Vera Hermina KalikaObjective: IPEX syndrome, a hereditary (X-linked) immune dysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and severe disease. The objective of this case report is to highlight the pleomorphism of the syndrome. Methods: The authors report the case of a male infant, with a family history of three male siblings affected by IPEX syndrome. The patients’ medical records were reviewed in order to describe the case of the youngest one. Results: During the follow-up of the youngest of three siblings, who presented eczema and intestinal manifestation, without compromised pancreatic and thyroid function, different from other two siblings, it was noticed the pattern of Dent’s disease. We registered hypophosphatemia, hypercalciuria, glycosuria, low molecular weight proteinuria and ultrasound revealed second stage bilateral nephrocalcinosis. In this child there was no apparent glomerular involvement, as it was seen in the eldest sibling. Conclusion: Dent’s disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5 (Xp11.22), which is next to FOXP3 gene on the X chromosome (Xp11.23-q13.3). It seems that in this sibling mutations occurred inexons of both of these genes. This case is to remind on pleomorphic potential of mutations that occur near the coding regions of the FOXP3 gene.
conferenceObject A BIOREPOSITORY AND A CLINICAL-LABORATORIAL DATABASE OF JUVENILE AUTOIMMUNE DISEASES: A RESOURCE FOR THE FUTURE(2013) LIPHAUS, B. L.; PATRAO, D. F. C.; REIS, J. M. A.; FONSECA, F. A. M.; NETO, F. C.; CARNEIRO-SAMPAIO, M. M. S.conferenceObject MOLECULAR CHARACTERIZATION OF COMPLEMENT C1Q, C2, AND C4 GENES IN JUVENILE SYSTEMIC LUPUS ERYTHEMATOSUS(2013) LIPHAUS, B. L.; UMETSU, N.; BANDO, S.; JESUS, A. A.; ANDRADE, L. E. C.; SILVA, C. A.; CARNEIRO-SAMPAIO, M.conferenceObject Detection of 22q11.2 Deletion in Infants with Congenital Heart Disease (Preliminary Data)(2013) CARNEIRO-SAMPAIO, M.; GRASSI, M. Sierro; KULIKOWSKI, L. Domenici; JACOB, C. Miuki Abe; DUTRA, R. Lelis; MIURA, N.; CECCON, M. E. Jurfest Rivero; KREBS, V. L. Jornada; CARVALHO, W. Brunow; JATENE, M.- Evaluation of the neonatal cytokine response: Basic mechanisms of activation via Toll-like receptors 2 and 4 in monocytes from term and preterm healthy newborns(2013) SILVEIRA-LESSA, Ana Lucia; QUINELLO, Camila; CIANCIARULLO, Marco Antonio; CECCON, Maria Esther J. R.; CARNEIRO-SAMPAIO, Magda; PALMEIRA, Patricia
conferenceObject Hemophagocytic Syndrome Following Oral Rotavirus and Poliovirus Vaccination in Brazilian Perforin-deficient Twins(2013) JACOB, C. Miuki Abe; SANTOS, C. N.; PASTORINO, A. C.; DORNA, M. B.; FERNANDES, J. Fi; CASTRO, A. P. Bm; ROCHA, V.; HAMERCHLAK, N.; SAINT-BASILE, G. de; CARNEIRO-SAMPAIO, M.conferenceObject The Most Frequent Primary Immunodeficiency Diseases (PIDDs) in Different Age Groups(2013) CARNEIRO-SAMPAIO, M.; JACOB, C. M. Abe; PASTORINO, A. C.; WATANABE, L.; DORNA, M.; DORIA-FILHO, U.; KOKRON, C. M.; TOLEDO-BARROS, M.; MORAES-VASCONCELOS, D.; DUARTE, A.- Interface of autoimmunity and immunodeficiency(2013) CARNEIRO-SAMPAIO, M.; COUTINHO, A.
- A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome(2013) CARATAO, Nadine; CORTESAO, Catarina S.; REIS, Pedro H.; FREITAS, Raquel F.; JACOB, Cristina M. A.; PASTORINO, Antonio C.; CARNEIRO-SAMPAIO, Magda; BARRETO, Vasco M.Activation-induced cytidine deaminase (AID) is a DNA editing protein that plays an essential role in three major events of immunoglobulin (Ig) diversification: somatic hypermutation, class switch recombination and Ig gene conversion. Mutations in the AID gene (AICDA) have been found in patients with autosomal recessive Hyper-IgM (HIGM) syndrome type 2. Here, two 9- and 14-year-old Brazilian sisters, from a consanguineous family, were diagnosed with HIGM2 syndrome. Sequencing analysis of the exons from AICDA revealed that both patients are homozygous for a single C to G transversion in the third position of codon 15, which replaces a conserved Phenylalanine with a Leucine. To our knowledge, this is a new AICDA mutation found in HIGM2 patients. Functional studies confirm that the homologous murine mutation leads to a dysfunctional protein with diminished intrinsic cytidine deaminase activity and is unable to rescue CSR when introduced in Aicda(-/-) stimulated murine B cells. We briefly discuss the relevance of AICDA mutations found in patients for the biology of this molecule.