VANDERSON GERALDO ROCHA

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Departamento de Clínica Médica, Faculdade de Medicina - Docente
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/31 - Laboratório de Genética e Hematologia Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder

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  • conferenceObject
    T-CELL- AND ANTIBODY-MEDIATED AUTOIMMUNE MANIFESTATIONS IN SCID DUE TO IL7RA MUTATIONS
    (2012) ZAGO, C. A.; JACOB, C. M. A.; DINIZ, E. M. D. A.; ZERBINI, C.; DORNA, M.; FERNANDES, J.; ROCHA, V.; OLIVEIRA, J. B.; CARNEIRO-SAMPAIO, M.
    Introduction: B+ SCID due to IL7Ra deficiency represents around 10% of SCID cases, and has seldom been described among Brazilian patients. Objective: We present two unrelated SCID female infants with IL7RA mutations and distinct autoimmune manifestations. Case 1: This infant was born to non-consanguineous parents at 28 weeks of gestational age presenting characteristic clinical as pects of Omenn syndrome (OS). She died after 2 days due to meconium-aspiration pneumonitis and pancarditis (with eosinophil and histiocyte infiltration). She presented leukocytosis (19,500/mm3), eosinophilia (4,860cells/mm3), lymphocytes=2,925cells/mm3 (CD3+=684cells/mm3, CD4+=345cells/mm3, CD8+=6cells/mm3, without naive T-cells, CD25+Foxp3+=2.3%, CD19+=641cells/mm 3, CD3-CD16+CD56+=280cells/mm3), thrombocytopenia=49,000/mm3, IgG=468mg/dL, IgM=45mg/dL, IgA<22mg/dL, IgE=3,310UI/ml. She harbored a homozygous p.C118Y IL7RA mutation. She is the second IL7Ra deficient OS in literature; the first described case presented the same mutation and was also Brazilian. Case 2: An 8-month-old girl presented since 4 months-old with severe thrombocytopenic purpura, treated with high IVIg doses and corticosteroids. She presented lymphocytopenia=1,287cells/mm3 (CD3=147cells/mm3, CD4=36cells/mm3, CD8=72cells/mm3), normal B (184cells/mm3, 80% withs IgM+IgD+) and NK numbers (259cells/mm3), very low TRECs, IgM=235mg/dL, IgA=51mg/dL, IgE=5UI/ml, and positive anti-nuclear antibodies (1/320). A sister with an equivalent clinical picture died at 15 months of age. She had compound heterozygous p.C118Y and p.I121NfsX8 IL7RA mutations. She did not present serious infections, and was successfully transplanted with cord blood cells at 13-months-old. Conclusions: Autoimmune diseases associated to “leaky” SCIDs due to IL7RA mutations may be mediated by both autoreactive T lymphocytes (probably in case1, an intrauterine OS) and autoantibodies (probably the predominant pathogenic mechanism in case2).
  • conferenceObject
    Familial Hemophagocytic Lymphohistiocytosis Caused by Perforin Deficiency in Brazilian Twins
    (2012) JACOB, Cristina Miuki Abe; SANTOS, Cristiane de Jesus Nunes dos; SAINT-BASILE, Genevieve de; CASTRO, Ana Paula B. Moschione; PASTORINO, Antonio Carlos; FERNANDES, Juliana Folloni; ROCHA, Vanderson; CARNEIRO-SAMPAIO, Magda M. Sales
    Two female monozygotic twins presented: Case1-at2mo presented fever and vomiting after vaccination with DTP, Haemophilus, Salk, Rotavirus. The initial evaluation showed: anemia, hepatosplenomegaly, pancytopenia, LDH=0760 U/L, ferritin=0622 ng/mL and triglycerides=0362 mg/dL. Hemophagocytosis was found in bone marrow. Case2: clinically asymptomatic, being detected anemia, LDH=0726 U/L, ferritin=0436 ng/mL, triglycerides=0166 mg/dL, without hemophagocytosis. Infections were excluded in both. Molecular testing identified two heterozygous mutations in the perforin gene, C46T leading to P16S and 50delT leading to L17 stop, making the diagnosis of FHL type 2. Both twins underwent to therapy based on HLH-2004 protocol followed by cord blood transplantation and after CMV infection with a good response to treatment. FHL should be suspected in all children with fever, visceromegaly and cytopenias for early treatment, including hematopoietic stem cell transplantation.
  • article 45 Citação(ões) na Scopus
    Impact of pretransplant minimal residual disease after cord blood transplantation for childhood acute lymphoblastic leukemia in remission: an Eurocord, PDWP-EBMT analysis
    (2012) RUGGERI, A.; MICHEL, G.; DALLE, J-H; CANIGLIA, M.; LOCATELLI, F.; CAMPOS, A.; HEREDIA, C. D. de; MOHTY, M.; HURTADO, J. M. P.; BIERINGS, M.; BITTENCOURT, H.; MAUAD, M.; PURTILL, D.; CUNHA, R.; KABBARA, N.; GLUCKMAN, E.; LABOPIN, M.; PETERS, C.; ROCHA, V.
    To address the prognostic value of minimal residual disease (MRD) before unrelated cord blood transplantation (UCBT) in children with acute lymphoblastic leukemia (ALL), we analyzed 170 ALL children transplanted in complete remission (CR) after myeloablative conditioning regimen. In all, 72 (43%) were in first CR (CR1), 77 (45%) in second CR (CR2) and 21 (12%) in third CR (CR3). The median interval from MRD quantification to UCBT was 18 days. All patients received single-unit UCBT. Median follow-up was 4 years. Cumulative incidence (CI) of day-60 neutrophil engraftment was 85%. CI of 4 years relapse was 30%, incidence being lower in patients with negative MRD before UCBT (hazard ratio (HR) = 0.4, P = 0.01) and for those transplanted in CR1 and CR2 (HR = 0.3, P = 0.002). Probability of 4 years leukemia-free survival (LFS) was 44%, (56, 44 and 14% for patients transplanted in CR1, CR2 and CR3, respectively (P = 0.0001)). Patients with negative MRD before UCBT had better LFS after UCBT compared with those with positive MRD (54% vs 29%; HR = 2, P = 0.003). MRD assessment before UCBT for children with ALL in remission allows identifying patients at higher risk of relapse after transplantation. Approaches that may decrease relapse incidence in children given UCBT with positive MRD should be investigated to improve final outcomes. Leukemia (2012) 26, 2455-2461; doi:10.1038/leu.2012.123
  • article 93 Citação(ões) na Scopus
    Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?
    (2012) FERNANDES, Juliana F.; ROCHA, Vanderson; LABOPIN, Myriam; NEVEN, Benedicte; MOSHOUS, Despina; GENNERY, Andrew R.; FRIEDRICH, Wilhelm; PORTA, Fulvio; HEREDIA, Cristina Diaz de; WALL, Donna; BERTRAND, Yves; VEYS, Paul; SLATTER, Mary; SCHULZ, Ansgar; CHAN, Ka Wah; GRIMLEY, Michael; AYAS, Mouhab; GUNGOR, Tayfun; EBELL, Wolfram; BONFIM, Carmem; KALWAK, Krzysztof; TAUPIN, Pierre; BLANCHE, Stephane; GASPAR, H. Bobby; LANDAIS, Paul; FISCHER, Alain; GLUCKMAN, Eliane; CAVAZZANA-CALVO, Marina
    Pediatric patients with SCID constitute medical emergencies. In the absence of an HLA-identical hematopoietic stem cell (HSC) donor, mismatched related-donor transplantation (MMRDT) or unrelated-donor umbilical cord blood transplantation (UCBT) are valuable treatment options. To help transplantation centers choose the best treatment option, we retrospectively compared outcomes after 175 MMRDTs and 74 UCBTs in patients with SCID or Omenn syndrome. Median follow-up time was 83 months and 58 months for UCBT and MMRDT, respectively. Most UCB recipients received a myeloablative conditioning regimen; most MMRDT recipients did not. UCB recipients presented a higher frequency of complete donor chimerism (P = .04) and faster total lymphocyte count recovery (P = .04) without any statistically significance with the preparative regimen they received. The MMRDT and UCBT groups did not differ in terms of T-cell engraftment, CD4(+) and CD3(+) cell recoveries, while Ig replacement therapy was discontinued sooner after UCBT (adjusted P = .02). There was a trend toward a greater incidence of grades II-IV acute GVHD (P = .06) and more chronic GVHD (P = .03) after UCBT. The estimated 5-year overall survival rates were 62% +/- 4% after MMRDT and 57% +/- 6% after UCBT. For children with SCID and no HLA-identical sibling donor, both UCBT and MMRDT represent available HSC sources for transplantation with quite similar outcomes. (Blood. 2012;119(12):2949-2955)