MAYRA DE BARROS DORNA

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Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina

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Agora exibindo 1 - 10 de 27
  • 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
    Activated PI3K-Delta Syndrome (APDS): A Monogenic Cause of VEO-IBD That Impacts on Treatment
    (2019) LINDOSO, Livia; DEBONI, Mariana; DORNA, Mayra Barros; CASTRO, Ana Paula Moschione; PASTORINO, Antonio Carlos; TOMA, Ricardo
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    Activated Phosphoinositide 3-Kinase Syndrome (APDS): a Diagnosis to be Aware of
    (2017) BARP, M. F.; SILVA, P. A.; SILVA, P. F.; DORNA, M. B.; CASTRO, A. P. B. M.; SANTOS, C. J. N.; PASTORINO, A. C.
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    Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease in a Single Institution in Brazil. Reproducing Good Results with a Reduced Toxicity Regimen
    (2017) FERNANDES, Juliana Folloni; MANTOVANI, Luiz Fernando Alves Lima; VENANCIO, Angela Mandelli; DORNA, Mayra; PASTORINO, Antonio Carlos; VASCONCELOS, Dewton; NETO, Antonio Condino; MOURA, Ana Carla Augusto; COLLASSANTI, Maria Dulce; ZANICHELLI, Maria Aparecida; CARNEIRO-SAMPAIO, Magda; ROCHA, Vanderson G.; ODONE FILHO, Vicente
  • conferenceObject
    Anti-cytokine Antibodies Emerge After Viral Infections and Persist in Patients in Partial RAG Deficiency
    (2019) DAWSON, Irina; UJHAZI, Boglarka; CSOMOS, Krisztian; ABRAHAM, Roshini S.; SLEASMAN, John; KUIJPERS, Taco; NEVEN, Benedicte; LEIDING, Jennifer; MIHAILOVA, Snezhina; HOLLAND, Steven M.; SONG, Charles; GODA, Vera; KRIVAN, Gergely; SAVIC, Sinisa; SARGUR, Ravishankar; HENDERSON, Lauren; AL-HERZ, Waleed; DORNA, Mayra; HERNANDEZ, Joseph D.; BUTTE, Manish; WALTER, Jolan
  • conferenceObject
    Pulmonary Morphologic and Functional Abnormalities in Patients with Primary Hypogammaglobulinemia
    (2012) DORNA, Mayra de Barros; CASTRO, Ana Paula B. Moschione; PASTORINO, Antonio Carlos; CARNEIRO-SAMPAIO, Magda M. Sales; JACOB, Cristina Miuki Abe
    Retrospective evaluation of 30 patients (21 M) aged 4.6–23.4 y (median 16.7 y) with predominantly humoral PID(9IDCV;14XLA;7HIGM).Mediantimeof follow-up9.2y(1.8–17.5). Median age of symptoms’ onset8mo(1–96 mo), age at diagnosis 5.8 y (7–175 mo) and diagnostic delay 4.7 y (0.2–13 y). Pneumonia was the main manifestation before diagnosis (24/30 patients) with frequency of 0.6/patient/year. After beginning IVIG, frequency of pneumonias decreased to 0.1 (p<0.001) and the frequency of sinusitis increased from0to0.55(p<0.001). Higher age at diagnosis and longer diagnostic delay were associated to bronchiectasis at diagnosis (p=0.016 and p<0.001). Seven patients developed bronchiectasis during follow-up. Spirometry (23/30 patients), 1–15 y after IVIG was abnormal in 13 (9 obstructive; 4 restrictive). Humoral PID often affects respiratory tract and IVIG reduces complications but pulmonary monitoring is essential to guarantee adequate therapeutic interventions.
  • conferenceObject
    Granulocyte Transfusion in Patients with CGD: an Effective Alternative for Severe Refractory Infections
    (2017) GERHARDT, C. M. B.; PAIVA, B. M. G. P.; SANTOS, C. J. N.; CASTRO, A. P. B. M.; DORNA, M. B.; PASTORINO, A. C.
  • 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
    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.
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    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.