CRISTINA MIUKI ABE JACOB

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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.
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    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.
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    Evolution of milk-specific IgE antibody levels and its fractions during tolerance development in cow's milk allergic patients
    (2012) BECK, C.; CASTRO, A.; GUSHKEN, A.; WATANABE, L.; BRANDAO, A.; YONAMINE, G.; PASTORINO, A.; JACOB, C.
    Background: Food allergy affects about 6% of children and cow’s milk (CM) is the most important allergen. The majority of patients used to become tolerant during the first 3 years of life, but nowadays tolerance is being achieved later. Casein (C), alpha-lactalbumin (α) and beta-lactoglobulin (β) are considered as some of the major allergens. Until now, no study has evaluated the correlation among the whole cow’s milk (WCM) IgE antibody levels (IgE ab) and its fractions (C, α and β) during the tolerance development in CMA patients. Method: It was a retrospective study that included patients with previous diagnosis of CMA who developed tolerance during follow-up. It was included 31 IgE-mediated CMA patients (19 male: 12 female), median age of the first symptoms was 1 year. CMA was defined as a positive double blind placebo-controlled food challenge, open challenge or confirmed anaphylaxis plus cow’s milk-specific IgE positive (higher than 3.5 JU/l or positive skin prick test), and tolerance was defined as acceptance of cow milk without previous symptoms. Specific IgE analysis to WCM, α, β, and C were performed at three moments: initial (time 1), in the middle of the follow-up (time 2) and at the tolerance diagnosis (time 3). The chosen point during follow-up was that which corresponded to half of the period until tolerance was reached. The correlations among whole mil IgE ab and its fractions in those moments were evaluated with Spearman correlation test. Result: Ther values for whole cow’s milk IgE ab and each fraction according Spearman test are described in the following Table 1 Among all analysis, the correlation between whole cow’s milk and casein IgE ab and whole cow’s milk and alfalacto-albumin IgE ab showed adequater values at all moments of evaluations. Conclusion: These results can indicate that casein and alfalacto-albumin IgE ab showed similar behavior to WCM, and then the sequential evaluation through whole cow’s milk IgE ab levels may be enough for monitoring CMA patients until the tolerance development. Time Alpha-lactalbumin IgE ab Beta-lactoglobulin IgE ab Casein IgE ab 1 0.81 (0.63–0.90) 0.71 (0.46–0.85) 0.81 (0.64–0.91) 2 0.82 (0.65–0.91) 0.66 (0.39–0.82) 0.82 (0.65–0.91) 3 0.82 (0.64–0.91) 0.79 (0.60–0.90) 0.76 (0.54–0.90)
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    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 Kalika
    Objective: 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.
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    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.
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    Profiling using protein x basophil array: current progress
    (2012) WANG, X.; WAN, D.; JACOB, C.; FALCONE, F.; ALCOCER, M.
    Background: Correlation between observed allergic clinical symptoms and specific IgE levels is poor in some cases. Current developments on basophil activation tests (BAT) are showing improved clinic relevance (compared to DBPCFC) than specific IgE alone. We are developing a two stages diagnostic device which combines the advantages of BAT with the numerical power of protein microarrays. Previously we have shown that a four immunoglobulin platform for simultaneous detection of IgM, A, G and E was feasible. We then demonstrated as proof-of-principle that human peripheral blood basophils and humanised basophil cell lines can bind to a protein array and that activation can be detected. Here we show an application of the basic platform (protein array) and discuss current stages of development of the basophil array system. Method: Microarrays containing proteins and extracts of food products, enterobacteria and inhaled allergens have been hybridised with sera from a retrospective longitudinal trial of children with clinically well-characterized cow’s milk allergy (n= 41) and control sera (n= 20) as previously described. The IgM, A, G and E levels have been determined and were analysed using chemometric multivariate routines. For the second stage (basophil cells), binding and incubation parameters to the array were experimentally optimised for three independent cell lines. Basophil cell activation markers involving Annexin V binding, Calcium influx and fluorescent inducible reporter systems have been compared to enzymatic degranulation tests. Result: The basic platform (protein array only) has shown that total IgG and IgA share similar specificity whilst IgM and IgE in particular are distantly related. The array has shown that four out of the 41 patients might have allergies other than milk origin. A good correlation (r2> 0.7) between dairy IgE and ImunoCAP, casein in particular, was observed. In the basophil system (2nd stage platform), measurement of Annexin V and calcium influx produced expected degranulation endpoints however, fluorescent reporter genes have shown higher sensitivity. The lack of stability of cells after successive passages is still a major issue. Conclusion: The basic platform (protein array) for the comprehensive profiling tools has produced qualitatively and quantitative reproducible results. The optimisation of the second component (basophil cells) of the profiling platform that is, reporter genes for key steps.
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    Sensitisation to foods and dust mite in Brazilian pediatric patients with atopic dermatitis
    (2012) SWENSSON, A.; CASTRO, A.; CASAGRANDE, R.; BITTENCOURT, T.; YONAMINE, G.; PASTORINO, A.; JACOB, C.
    Background: Atopic dermatitis (AD) is a complex disease that can be or not related to atopy. The IgE levels and the presence of sensitisation has been associated to AD severity. The aim of this study is to evaluate the allergen sensitisation profile in patients with moderate or severe atopic dermatitis in Brazilian patients from an allergy reference center. Methods: About 66 patients with diagnosis of atopic dermatitis according Hanifin e Rajka criteria (mean age 10 years) followed at a reference center for allergic disease in pediatric patients were included. The severity was evaluated according SCORAD (SCORing Atopic Dermatitis) criteria. Specific IgE was measured to the following allergens: Blomia tropicalis, D peteronyssinus, egg white, cow’s milk and its fractions. Sensitisation was considered positive when the ImmunoCAP values were ¡Y 0.35 kU/l and multi sensitisation was considered when patients presented positive specific IgE for all allergens tested. Table 1 Hapten Total, positive (n,%) Total, clinically relevant (n,%) Children, positive (n,%) Children, clinically relevant (n,%) Adolescents, positive (n,%) Adolescents, clinically relevant (n,%) Nickel sulphate 5% pet. 44 (34.6) 36 (28.3) 19 (29.7) 14 (21.9) 25 (39.7) 22 (34.9) Cobalt chloride 1% pet. 28 (22.0) 15 (11.8) 16 (25.0) 9 (14.1) 12 (19.0) 6 (9.5) Potassium dichromate 0.5% pet. 26 (20.5) 15 (11.8) 19 (29.7) 10 (15.6) 7 (11.1) 5 (7.9) Paraphenylenediamine 1% pet. 12 (9.4) 6 (4.7) 8 (12.5) 5 (7.8) 4 (6.3) 1 (1.6) Propolis 10% pet. 12 (9.4) 5 (3.9) 11 (17.2) 5 (7.8) 1 (1.6) 0 (0.0) Palladium chloride 2% pet. 12 (9.4) 4 (3.1) 6 (9.4) 2 (3.1) 6 (9.5) 2 (3.2) Fragrance Mix I 18% pet. 10 (7.9) 4 (3.1) 4 (6.3) 2 (3.1) 6 (9.5) 2 (3.2) Neomycin sulphate 20% pet. 6 (4.7) 2 (1.6) 4 (6.3) 2 (3.1) 2 (3.2) 0 (0.0) Balsam of Peru (Myroxylon pereirae ) 25% pet. 6 (4.7) 1 (0.8) 4 (6.3) 1 (1.6) 2 (3.2) 0 (0.0) Colophonium 20% pet. 5 (3.9) 4 (3.1) 2 (3.1) 2 (3.1) 3 (4.8) 2 (3.2) Wool alcohols (lanolin) 30% pet. 5 (3.9) 3 (2.4) 3 (4.7) 3 (4.7) 2 (3.2) 0 (0.0) Paraben Mix 16% pet. 4 (3.1) 4 (3.1) 3 (4.7) 3 (4.7) 1 (1.6) 1 (1.6) Kathon CG (MI/MCI) 0.01% aqua 4 (3.1) 2 (1.6) 3 (4.7) 2 (3.1) 1 (1.6) 0 (0.0) Results: Among 66 patients included, 12 presented severe AD and 54 moderated. Sixty two of the 66 (93%) patients studied showed positive sensitization to any of the allergens, being aeroallergens the most prevalent (53/56), followed by egg white (29/53) and milk (31/66). Serum levels of specific IgE to aerollergens were significantly higher than for food allergens (P< 0.001). Specific IgE levels did not differ according severity (P> 0.05 for all allergens evaluated About 23 patients presented multi sensitization (17 moderate and six severe) without significant difference between both groups. Conclusion: There was an elevate rate of sensitisation in this group of patients being aeroallergens the most frequent and with higher specific IgE levels. AD severity did not contribute to increase sensitisation. More studies should be performed in order to evaluate if these findings can lead to specific therapeutic strategies as specific immunotherapy or food avoidance.
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    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.
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    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).
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    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.