20 results on '"Dorna MB"'
Search Results
2. Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo.
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Mendonça LO, Dos Reis Chuster AP, Dorna MB, Barros SF, Alves JB, Gonçalves VL, Yang AC, Kalil J, Toledo-Barros MAM, and Kokron CM
- Abstract
Background: IPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema. However many other clinical presentations lacking the triad above described have been reported what underpin the need of careful clinical suspicion, immunological evaluation and genetic sequencing., Case Presentation: Here we report a case of a Brazilian boy with severe eczema as the first and only presentation requiring cyclosporin therapy. Progressive and cumulative symptoms of arthritis and enteropathy lead to the suspicion of an inborn error of immunity. Peripheral FOXP3 expression was normal (CD127-/CD4+/CD25+/FOXP3+-396 cells-63%) and a pathogenic mutation in FOXP3 gene (c.1150G>A; p.Ala384Thr), confirmed the diagnosis of IPEX syndrome., Conclusions: IPEX syndrome should be suspected in patients presenting with severe eczema associated or not with other autoimmune/hyper inflammatory diseases in life. Our study also reinforces that FOXP3 expression by flowcytometry seems not to be a good screening method, and genetic sequencing is mandatory even in those with high suspicion and normal peripheral FOXP3 expression., (© 2022. The Author(s).)
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- 2022
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3. Technical performance of a lateral flow immunoassay for detection of anti-SARS-CoV-2 IgG in the outpatient follow-up of non-severe cases and at different times after vaccination: comparison with enzyme and chemiluminescent immunoassays.
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Barreira GA, Santos EHD, Pereira MFB, Rodrigues KA, Rocha MC, Kanunfre KA, Marques HHS, Okay TS, Eisencraft AP, Rossi Junior A, Fante AL, Cora AP, Costa Reis AGA, Ferrer APS, Andrade APM, Watanabe A, Gonçalves AMF, Waetge ARP, Silva CA, Ceneviva C, Lazari CDS, Abellan DM, Sabino EC, Bianchini FRM, Alcantara FFP, Ramos GF, Leal GN, Rodriguez IS, Pinho JRR, Carneiro JDA, Paz JA, Ferreira JC, Ferranti JF, Ferreira JOA, Framil JVS, Silva KRD, Bastos KLM, Galleti KV, Cristofani LM, Suzuki L, Campos LMA, Perondi MBM, Diniz MFR, Fonseca MFM, Cordon MNA, Pissolato M, Peres MS, Garanito MP, Imamura M, Dorna MB, Luglio M, Aikawa NE, Degaspare NV, Sakita NK, Udsen NL, Scudeller PG, Gaiolla PVV, Severini RDSG, Rodrigues RM, Toma RK, Paula RIC, Palmeira P, Forsait S, Farhat SCL, Sakano TMS, Koch VHK, and Cobello Junior V
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- Adult, Antibodies, Viral, Child, Follow-Up Studies, Humans, Immunoassay methods, Immunoglobulin G, Immunoglobulin M, Outpatients, Sensitivity and Specificity, Vaccination, COVID-19 diagnosis, COVID-19 prevention & control
- Abstract
This study assessed the technical performance of a rapid lateral flow immunochromatographic assay (LFIA) for the detection of anti-SARS-CoV-2 IgG and compared LFIA results with chemiluminescent immunoassay (CLIA) results and an in-house enzyme immunoassay (EIA). To this end, a total of 216 whole blood or serum samples from three groups were analyzed: the first group was composed of 68 true negative cases corresponding to blood bank donors, healthy young volunteers, and eight pediatric patients diagnosed with other coronavirus infections. The serum samples from these participants were obtained and stored in a pre-COVID-19 period, thus they were not expected to have COVID-19. In the second group of true positive cases, we chose to replace natural cases of COVID-19 by 96 participants who were expected to have produced anti-SARS-CoV-2 IgG antibodies 30-60 days after the vaccine booster dose. The serum samples were collected on the same day that LFIA were tested either by EIA or CLIA. The third study group was composed of 52 participants (12 adults and 40 children) who did or did not have anti-SARS-CoV-2 IgG antibodies due to specific clinical scenarios. The 12 adults had been vaccinated more than seven months before LFIA testing, and the 40 children had non-severe COVID-19 diagnosed using RT-PCR during the acute phase of infection. They were referred for outpatient follow-up and during this period the serum samples were collected and tested by CLIA and LFIA. All tests were performed by the same healthcare operator and there was no variation of LFIA results when tests were performed on finger prick whole blood or serum samples, so that results were grouped for analysis. LFIA's sensitivity in detecting anti-SARS-CoV-2 IgG antibodies was 90%, specificity 97.6%, efficiency 93%, PPV 98.3%, NPV 86.6%, and likelihood ratio for a positive or a negative result were 37.5 and 0.01 respectively. There was a good agreement (Kappa index of 0.677) between LFIA results and serological (EIA or CLIA) results. In conclusion, LFIA analyzed in this study showed a good technical performance and agreement with reference serological assays (EIA or CLIA), therefore it can be recommended for use in the outpatient follow-up of non-severe cases of COVID-19 and to assess anti-SARS-CoV-2 IgG antibody production induced by vaccination and the antibodies decrease over time. However, LFIAs should be confirmed by using reference serological assays whenever possible.
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- 2022
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4. CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.
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França TT, Barreiros LA, Salgado RC, Napoleão SMDS, Gomes LN, Ferreira JFS, Prando C, Weber CW, Di Gesu RSW, Montenegro C, Aranda CS, Kuntze G, Staines-Boone AT, Venegas-Montoya E, Becerra JCA, Bezrodnik L, Di Giovanni D, Moreira I, Seminario GA, Raccio ACG, Dorna MB, Rosário-Filho NA, Chong-Neto HJ, de Carvalho E, Grotta MB, Orellana JC, Dominguez MG, Porras O, Sasia L, Salvucci K, Garip E, Leite LFB, Forte WCN, Pinto-Mariz F, Goudouris E, Nuñez MEN, Schelotto M, Ruiz LB, Liberatore DI, Ochs HD, Cabral-Marques O, and Condino-Neto A
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- Cohort Studies, Humans, Latin America epidemiology, Retrospective Studies, CD40 Ligand genetics, Immunologic Deficiency Syndromes diagnosis, Immunologic Deficiency Syndromes genetics, Immunologic Deficiency Syndromes therapy
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CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
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- 2022
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5. Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center.
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Grassi MS, Montenegro M, Zanardo EA, Pastorino AC, Dorna MB, Kim C, Jatene M, Miura N, Kulikowski L, and Carneiro-Sampaio M
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- Brazil, Chromosome Deletion, Humans, Infant, Infant, Newborn, Mass Screening, Multiplex Polymerase Chain Reaction methods, DiGeorge Syndrome diagnosis, DiGeorge Syndrome genetics, Heart Defects, Congenital diagnosis, Heart Defects, Congenital genetics
- Abstract
Background: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases., Objective: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations., Methods: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique., Results: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup., Conclusion: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.
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- 2022
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6. Differences in children and adolescents with SARS-CoV-2 infection: a cohort study in a Brazilian tertiary referral hospital.
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Marques HHS, Pereira MFB, Santos ACD, Fink TT, Paula CSY, Litvinov N, Schvartsman C, Delgado AF, Gibelli MABC, Carvalho WB, Odone Filho V, Tannuri U, Carneiro-Sampaio M, Grisi S, Duarte AJDS, Antonangelo L, Francisco RPV, Okay TS, Batisttella LR, Carvalho CRR, Brentani AVM, Silva CA, Eisencraft AP, Rossi Junior A, Fante AL, Cora AP, Reis AGAC, Ferrer APS, Andrade APM, Watanabe A, Gonçalves AMF, Waetge ARP, Silva CA, Ceneviva C, Lazari CDS, Abellan DM, Santos EHD, Sabino EC, Bianchini FRM, Alcantara FFP, Ramos GF, Leal GN, Rodriguez IS, Pinho JRR, Carneiro JDA, Paz JA, Ferreira JC, Ferranti JF, Ferreira JOA, Framil JVS, Silva KRD, Kanunfre KA, Bastos KLM, Galleti KV, Cristofani LM, Suzuki L, Campos LMA, Perondi MBM, Diniz MFR, Fonseca MFM, Cordon MNA, Pissolato M, Peres MS, Garanito MP, Imamura M, Dorna MB, Luglio M, Rocha MC, Aikawa NE, Degaspare NV, Sakita NK, Udsen NL, Scudeller PG, Gaiolla PVV, Severini RDSG, Rodrigues RM, Toma RK, Paula RIC, Palmeira P, Forsait S, Farhat SCL, Sakano TMS, Koch VHK, and Cobello Junior V
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- Adolescent, Child, Cohort Studies, Cross-Sectional Studies, Humans, Infant, Newborn, SARS-CoV-2, Systemic Inflammatory Response Syndrome, Tertiary Care Centers, COVID-19 complications
- Abstract
Objectives: To compare demographic/clinical/laboratory/treatments and outcomes among children and adolescents with laboratory-confirmed coronavirus disease 2019 (COVID-19)., Methods: This was a cross-sectional study that included patients diagnosed with pediatric COVID-19 (aged <18 years) between April 11, 2020 and April 22, 2021. During this period, 102/5,951 (1.7%) of all admissions occurred in neonates, children, and adolescents. Furthermore, 3,962 severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) detection samples were processed in patients aged <18 years, and laboratory-confirmed COVID-19 occurred in 155 (4%) inpatients and outpatients. Six/155 pediatric patients were excluded from the study. Therefore, the final group included 149 children and adolescents (n=97 inpatients and 52 outpatients) with positive SARS-CoV-2 results., Results: The frequencies of sore throat, anosmia, dysgeusia, headache, myalgia, nausea, lymphopenia, pre-existing chronic conditions, immunosuppressive conditions, and autoimmune diseases were significantly reduced in children and adolescents (p<0.05). Likewise, the frequencies of enoxaparin use (p=0.037), current immunosuppressant use (p=0.008), vasoactive agents (p=0.045), arterial hypotension (p<0.001), and shock (p=0.024) were significantly lower in children than in adolescents. Logistic regression analysis showed that adolescents with laboratory-confirmed COVID-19 had increased odds ratios (ORs) for sore throat (OR 13.054; 95% confidence interval [CI] 2.750-61.977; p=0.001), nausea (OR 8.875; 95% CI 1.660-47.446; p=0.011), and lymphopenia (OR 3.575; 95% CI 1.355-9.430; p=0.010), but also had less hospitalizations (OR 0.355; 95% CI 0.138-0.916; p=0.032). The additional logistic regression analysis on patients with preexisting chronic conditions (n=108) showed that death as an outcome was significantly associated with pediatric severe acute respiratory syndrome (SARS) (OR 22.300; 95% CI 2.341-212.421; p=0.007) and multisystem inflammatory syndrome in children (MIS-C) (OR 11.261; 95% CI 1.189-106. 581; p=0.035)., Conclusions: Half of the laboratory-confirmed COVID-19 cases occurred in adolescents. Individuals belonging to this age group had an acute systemic involvement of SARS-CoV-2 infection. Pediatric SARS and MIS-C were the most important factors associated with the mortality rate in pediatric chronic conditions with COVID-19.
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- 2021
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7. Persistent symptoms and decreased health-related quality of life after symptomatic pediatric COVID-19: A prospective study in a Latin American tertiary hospital.
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Fink TT, Marques HHS, Gualano B, Lindoso L, Bain V, Astley C, Martins F, Matheus D, Matsuo OM, Suguita P, Trindade V, Paula CSY, Farhat SCL, Palmeira P, Leal GN, Suzuki L, Odone Filho V, Carneiro-Sampaio M, Duarte AJS, Antonangelo L, Batisttella LR, Polanczyk GV, Pereira RMR, Carvalho CRR, Buchpiguel CA, Xavier ACL, Seelaender M, Silva CA, Pereira MFB, Sallum AME, Brentani AVM, Neto ÁJS, Ihara A, Santos AR, Canton APM, Watanabe A, Santos ACD, Pastorino AC, Franco BDGM, Caruzo B, Ceneviva C, Martins CCMF, Prado D, Abellan DM, Benatti FB, Smaria F, Gonçalves FT, Penteado FD, Castro GSF, Gonçalves GS, Roschel H, Disi IR, Marques IG, Castro IA, Buscatti IM, Faiad JZ, Fiamoncini J, Rodrigues JC, Carneiro JDA, Paz JA, Ferreira JC, Ferreira JCO, Silva KR, Bastos KLM, Kozu K, Cristofani LM, Souza LVB, Campos LMA, Silva Filho LVRF, Sapienza MT, Lima MS, Garanito MP, Santos MFA, Dorna MB, Aikawa NE, Litvinov N, Sakita NK, Gaiolla PVV, Pasqualucci P, Toma RK, Correa-Silva S, Sieczkowska SM, Imamura M, Forsait S, Santos VA, and Zheng Y
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- Adolescent, COVID-19 Testing, Child, Humans, Latin America, Male, Prospective Studies, Quality of Life, SARS-CoV-2, Tertiary Care Centers, Post-Acute COVID-19 Syndrome, COVID-19 complications
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Objectives: To prospectively evaluate demographic, anthropometric and health-related quality of life (HRQoL) in pediatric patients with laboratory-confirmed coronavirus disease 2019 (COVID-19)., Methods: This was a longitudinal observational study of surviving pediatric post-COVID-19 patients (n=53) and pediatric subjects without laboratory-confirmed COVID-19 included as controls (n=52) was performed., Results: The median duration between COVID-19 diagnosis (n=53) and follow-up was 4.4 months (0.8-10.7). Twenty-three of 53 (43%) patients reported at least one persistent symptom at the longitudinal follow-up visit and 12/53 (23%) had long COVID-19, with at least one symptom lasting for >12 weeks. The most frequently reported symptoms at the longitudinal follow-up visit were headache (19%), severe recurrent headache (9%), tiredness (9%), dyspnea (8%), and concentration difficulty (4%). At the longitudinal follow-up visit, the frequencies of anemia (11% versus 0%, p=0.030), lymphopenia (42% versus 18%, p=0.020), C-reactive protein level of >30 mg/L (35% versus 0%, p=0.0001), and D-dimer level of >1000 ng/mL (43% versus 6%, p=0.0004) significantly reduced compared with baseline values. Chest X-ray abnormalities (11% versus 2%, p=0.178) and cardiac alterations on echocardiogram (33% versus 22%, p=0.462) were similar at both visits. Comparison of characteristic data between patients with COVID-19 at the longitudinal follow-up visit and controls showed similar age (p=0.962), proportion of male sex (p=0.907), ethnicity (p=0.566), family minimum monthly wage (p=0.664), body mass index (p=0.601), and pediatric pre-existing chronic conditions (p=1.000). The Pediatric Quality of Live Inventory 4.0 scores, median physical score (69 [0-100] versus 81 [34-100], p=0.012), and school score (60 [15-100] versus 70 [15-95], p=0.028) were significantly lower in pediatric patients with COVID-19 at the longitudinal follow-up visit than in controls., Conclusions: Pediatric patients with COVID-19 showed a longitudinal impact on HRQoL parameters, particularly in physical/school domains, reinforcing the need for a prospective multidisciplinary approach for these patients. These data highlight the importance of closer monitoring of children and adolescents by the clinical team after COVID-19.
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- 2021
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8. CD40L modulates transcriptional signatures of neutrophils in the bone marrow associated with development and trafficking.
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França TT, Al-Sbiei A, Bashir G, Mohamed YA, Salgado RC, Barreiros LA, Maria da Silva Napoleão S, Weber CW, Fernandes Severo Ferreira J, Aranda CS, Prando C, de Barros Dorna MB, Jurisica I, Fernandez-Cabezudo MJ, Ochs HD, Condino-Neto A, Al-Ramadi BK, and Cabral-Marques O
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- Animals, CD40 Ligand genetics, Cell Differentiation genetics, Cell Movement genetics, Cells, Cultured, Female, Gene Expression Regulation, Developmental, Mice, Mice, Knockout, Models, Animal, RNA-Seq, Signal Transduction genetics, Bone Marrow growth & development, CD40 Antigens metabolism, CD40 Ligand metabolism, Hematopoiesis genetics, Neutrophils physiology
- Abstract
Neutrophils are produced in the BM in a process called granulopoiesis, in which progenitor cells sequentially develop into mature neutrophils. During the developmental process, which is finely regulated by distinct transcription factors, neutrophils acquire the ability to exit the BM, properly distribute throughout the body, and migrate to infection sites. Previous studies have demonstrated that CD40 ligand (CD40L) influences hematopoiesis and granulopoiesis. Here, we investigate the effect of CD40L on neutrophil development and trafficking by performing functional and transcriptome analyses. We found that CD40L signaling plays an essential role in the early stages of neutrophil generation and development in the BM. Moreover, CD40L modulates transcriptional signatures, indicating that this molecule enables neutrophils to traffic throughout the body and to migrate in response to inflammatory signals. Thus, our study provides insights into the complex relationships between CD40L signaling and granulopoiesis, and it suggests a potentially novel and nonredundant role of CD40L signaling in neutrophil development and function.
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- 2021
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9. Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss.
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Candelaria GTP, Antunes AA, Pastorino AC, Dorna MB, Zanardo EA, Dias AT, Sugayama SMM, Odone-Filho V, Kulikowski LD, and Garanito MP
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Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integrin activation in hematopoietic cells due to mutations in the FERMT3 gene. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q and is essential for the normal maturation and function of hair bundle in the cochlea. Homozygous PTPRQ mutations impair the stereocilia in hair cells which lead to nonsyndromic sensorineural hearing loss (SNHL) with vestibular dysfunction. Here, we report two novel pathogenic homozygous mutations found in two genes, FERMT3 and PTPRQ , in a Brazilian patient with LAD-III and SNHL, which may develop our understanding of the phenotype-genotype correlation and prognosis of patients with these rare diseases., Competing Interests: Conflict of Interest None declared., (Thieme. All rights reserved.)
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- 2021
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10. Microbiological profile in chronic granulomatous disease patients in a single Brazilian primary immunodeficiency center.
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Oliveira AFB, Pastorino AC, Dorna MB, Castro APBM, Pegler JRM, Morgenstern B, and Carneiro-Sampaio MMS
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- Bacteria immunology, Bacteria isolation & purification, Bacterial Infections diagnosis, Bacterial Infections immunology, Brazil, Child, Child, Preschool, Cross-Sectional Studies, Female, Fungi immunology, Fungi isolation & purification, Granulomatous Disease, Chronic immunology, Humans, Infant, Male, Mycoses diagnosis, Mycoses immunology, Retrospective Studies, Bacterial Infections microbiology, Granulomatous Disease, Chronic complications, Mycoses microbiology
- Abstract
Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of lung, skin, lymph nodes, and liver are the hallmark of CGD and frequently the initial manifestation of the disease. The aim of the present paper is to describe the sites of infections and their causative agents in 38 pediatric patients with CGD., Methods: This retrospective, single-center cohort study included CGD patients followed at the allergy and immunology unit of a tertiary hospital in São Paulo, Brazil over the last 40 years. Sites of infections and their causative agents were described., Results: Thirty-eight patients were included (36 males). The median age of onset of symptoms was 45 days (ranging from 7 days-7 years), and the median age at diagnosis was 23 months (ranging from 1 month-12 years). In all, 31.6% of the patients reported a family history of child deaths and 21% (eight cases) had another male family member with CGD. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%); 188 cultures were positive (85.6% bacteria; 14.4% fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in one patient (0.9%)., Conclusion: Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents found in this cohort. M. tuberculosis should be considered in endemic area. Detection of infectious agents drives to the adequate treatment and benefits the evolution of patients with CGD., Competing Interests: There was no conflict of interest on the part of authors.
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- 2021
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11. Transfusion-related acute lung injury associated to intravenous immunoglobulin infusion in a pediatric patient.
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Pegler JRM, Castro APBM, Pastorino AC, and Dorna MB
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- Adult, Aged, Female, Humans, Immunoglobulins, Intravenous adverse effects, Infusions, Intravenous, Male, Middle Aged, Immunologic Deficiency Syndromes, Lung Diseases, Transfusion-Related Acute Lung Injury
- Abstract
Case report of a patient with an immunodeficiency who demands regular replacement of intravenous immunoglobulin. She presented an episode of transfusion-related acute lung injury shortly after using an immunoglobulin product different than the one she usually received. The patient evolved with respiratory changes (hypoxia, dyspnea, change in pulmonary auscultation) minutes after the end of the infusion, and received non-invasive respiratory support. She was discharged after 36 hours with good outcome. The patient achieved full recovery, showing no further reactions in subsequent immunoglobulin infusions (no longer receiving the product that was used when she had the episode of transfusion-related acute lung injury). Although rare, this reaction is potentially serious and has no specific treatment other than supportive therapy. The literature is scarce regarding the risk of recurrence. The decision on whether to proceed with immunoglobulin therapy after this adverse effect should be analyzed individually, assessing the possible risks and benefits for the patient.
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- 2020
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12. Safety of yellow fever vaccine administration in confirmed egg-allergic patients.
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Gerhardt CMB, Castro APBM, Pastorino AC, Dorna MB, Nunes-Santos CJ, Aquilante BP, Miyaji KT, and Lopes MH
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- Child, Preschool, Eggs, Humans, Prospective Studies, Skin Tests, Egg Hypersensitivity, Vaccines, Yellow Fever prevention & control, Yellow Fever Vaccine adverse effects
- Abstract
Yellow fever vaccine (YFV) is recommended in endemic areas but represents a risk for egg-allergic patients, as it is cultivated in embryonated eggs. This study aims to describe the outcomes of yellow fever vaccination in patients with confirmed egg allergy (EA). Methods:A prospective study was conducted from January 2018 to September 2019. EA was diagnosed through positive oral food challenge (OFC), recent history of anaphylaxis following egg contact (anaphylaxis in the last 6 months) or immediate allergic reaction in the last 2 months with positive specific IgE. A skinprick test (SPT) with YFV was performed. If the SPT was negative, an intradermal test (ID) was performed at a 1:100 dilution. If the ID was negative, a full dose of YFV was administered. If the skin prick test or ID were positive, the YFV was administered using a graded dosing protocol. Results: It was included 58 patients with confirmed egg allergy (36 M:22F), with a median age of 2.3 years (0.7-13.9 y/o). Forty-two patients had a positive OFC. Nine reported recent anaphylaxis. The other 7 had reactions in the last 2 months with positive specific IgE. During OFC, 15 presented anaphylaxis, while the other 27 presented hives and/or angioedema or vomiting. SPT with YFV was negative in all patients. ID was negative in 48 patients who uneventfully received a full dose of YFV. Ten patients had a positive ID and received YFV in graded doses. Six patients presented a mild reaction controlled with antihistamines, and 4 patients received the vaccine without reactions. Positive ID was significantly related to the vaccine reaction (p < 0.0001). Administration of YFV using a specific protocol was safe even in anaphylactic patients. However, we recommend performing the ID, which can help predict a higher risk of vaccine reaction. An appropriate setting is required to control adverse events., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 Elsevier Ltd. All rights reserved.)
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- 2020
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13. Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency.
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Dorna MB, Barbosa PFA, Rangel-Santos A, Csomos K, Ujhazi B, Dasso JF, Thwaites D, Boyes J, Savic S, and Walter JE
- Abstract
Proteins expressed by recombination activating genes 1 and 2 (RAG1/2) are essential in the process of V(D)J recombination that leads to generation of the T and B cell repertoires. Clinical and immunological phenotypes of patients with RAG deficiencies correlate well to the degree of impaired RAG activity and this has been expanding to variants of combined immunodeficiency (CID) or even milder antibody deficiency syndromes. Pathogenic variants that severely impair recombinase activity of RAG1/2 determine a severe combined immunodeficiency (SCID) phenotype, whereas hypomorphic variants result in leaky (partial) SCID and other immunodeficiencies. We report a patient with novel pathogenic compound heterozygous RAG2 variants that result in a CID phenotype with two distinctive characteristics: late-onset progressive hypogammaglobulinemia and highly elevated B cell count. In addition, the patient had early onset of infections, T cell lymphopenia and expansion of lymphocytes after exposure to herpes family viruses. This case highlights the importance of considering pathogenic RAG variants among patients with preserved B cell count and CID phenotype.
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- 2019
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14. Comment to: II Brazilian Consensus on the use of human immunoglobulin in patients with primary immunodeficiencies. einstein (São Paulo). 2017;15(1):1-16.
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Goudouris ES, Silva AMDR, Ouricuri AL, Grumach AS, Condino-Neto A, Costa-Carvalho BT, Prando CCM, Kokron CM, Vasconcelos DM, Tavares FS, Segundo GRS, Barreto ICDP, Dorna MB, Barros MAMT, and Forte WCN
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- Brazil, Humans, Immunologic Deficiency Syndromes, Consensus, Immunoglobulins
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- 2017
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15. Baked milk tolerant patient: Is there any special feature?
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Barbosa CPG, Castro APM, Yonamine GH, Gushken AKF, Beck CML, Macedo PRC, Dorna MB, Santos CJN, Pastorino AC, and Jacob CMA
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- Adolescent, Child, Child, Preschool, Cross-Sectional Studies, Female, Humans, Immune Tolerance immunology, Male, Cooking, Milk Hypersensitivity epidemiology, Milk Hypersensitivity immunology
- Abstract
Background: Determining whether patients with cow's milk allergy (CMA) can tolerate foods produced with baked milk could provide a better quality of life, a better prognosis, and an option for desensitization., Objectives: The aim of this study was to identify which patients over four years of age with persistent CMA could tolerate baked milk, to compare the clinical and laboratory characteristics of reactive and non-reactive groups and to describe their clinical evolution., Materials and Methods: A cross-sectional study was conducted (January/13 to November/14) that included all the patients followed at a food allergy center who met the inclusion criteria. The patients underwent an oral food challenge (OFC) with a muffin (2.8g of cow's milk protein). To exclude cow's milk (CM) tolerance, the patients were subsequently challenged with unheated CM., Results: Thirty patients met all the inclusion criteria. Fourteen patients (46.7%) were considered non-reactive to baked milk and reactive to unheated CM. When the groups that were reactive and non-reactive to baked milk were compared, no statistically significant differences in clinical features were found. The prick test for α-lactalbumin (p=0.01) and casein (p=0.004) and the serum specific IgE for casein (p=0.05) presented statistical differences. After one year, none of the patients who were reactive to baked milk were ingesting CM, while 28% of the tolerant patients were consuming fresh CM (p=0.037)., Conclusions: Baked milk can be tolerated by patients with CMA, especially those with lower levels of casein and α-lactalbumin. This option can improve quality of life and accelerate tolerance., (Copyright © 2016 SEICAP. Published by Elsevier España, S.L.U. All rights reserved.)
- Published
- 2017
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16. II Brazilian Consensus on the use of human immunoglobulin in patients with primary immunodeficiencies.
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Goudouris ES, Rego Silva AM, Ouricuri AL, Grumach AS, Condino-Neto A, Costa-Carvalho BT, Prando CC, Kokron CM, Vasconcelos DM, Tavares FS, Silva Segundo GR, Barreto IC, Dorna MB, Barros MA, and Forte WCN
- Subjects
- Administration, Cutaneous, Administration, Intravenous, Brazil, Humans, Immunologic Deficiency Syndromes, Immunologic Factors supply & distribution, Treatment Outcome, Consensus, Immunoglobulins therapeutic use, Immunologic Factors therapeutic use
- Abstract
In the last few years, new primary immunodeficiencies and genetic defects have been described. Recently, immunoglobulin products with improved compositions and for subcutaneous use have become available in Brazil. In order to guide physicians on the use of human immunoglobulin to treat primary immunodeficiencies, based on a narrative literature review and their professional experience, the members of the Primary Immunodeficiency Group of the Brazilian Society of Allergy and Immunology prepared an updated document of the 1st Brazilian Consensus, published in 2010. The document presents new knowledge about the indications and efficacy of immunoglobulin therapy in primary immunodeficiencies, relevant production-related aspects, mode of use (routes of administration, pharmacokinetics, doses and intervals), adverse events (major, prevention, treatment and reporting), patient monitoring, presentations available and how to have access to this therapeutic resource in Brazil.
- Published
- 2017
- Full Text
- View/download PDF
17. Cow's milk allergy: Evaluating tolerance through skin-prick test.
- Author
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Neves FV, Beck CM, Gushken AK, Yonamine GH, Castro AP, Dorna MB, Santos CJ, and Pastorino AC
- Subjects
- Adolescent, Child, Child, Preschool, Cohort Studies, Female, Humans, Immunoglobulin E blood, Infant, Male, Reproducibility of Results, Retrospective Studies, Sensitivity and Specificity, Immunoglobulin E immunology, Milk Hypersensitivity diagnosis, Skin Tests methods
- Abstract
Objective:: To evaluate the wheal diameter in allergy skin-prick tests (SPT) with cow's milk extract (CM) comparing tolerant and persistent patients., Method:: A retrospective cohort study involving database analysis of children with diagnosis of cow's milk protein allergy (CMPA) mediated by immunoglobulin E in a specialized outpatient clinic that regularly performed SPT between January 2000 and July 2015. Patients were allocated into two groups: tolerant or persistent. Comparisons were made at diagnosis and over time between tolerant and persistent patients using Fisher's, Mann-Whitney or Wilcoxon tests and significance level at 5%., Results:: After applying inclusion and exclusion criteria, the sample includes 44 patients (29 tolerant and 15 who persisted with CMPA). In the tolerant group, the medians of SPT were: 6 mm at diagnosis and 2 mm at the development of tolerance; a significant difference (p<0.0001) was found. In the persistent group, the median SPT at diagnosis was 7 mm, while in the last SPT it was 5 mm, with no statistical difference (p=0.173). The comparison of medians in the last SPT between groups was significant (p=0.001), with a reduction greater than 50% in SPT in the tolerant group., Conclusion:: Serial SPTs were useful for diagnosis, and a decrease higher than 50% in diameter can indicate the moment to perform oral food challenge (OFC) tests, helping to detect tolerance in CMPA.
- Published
- 2016
- Full Text
- View/download PDF
18. Primary hypogammaglobulinemia: The impact of early diagnosis in lung complications.
- Author
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Dorna MB, Santos CJ, Castro AP, Oliveira LA, Suzuki L, Ferme AL, Carneiro-Sampaio MM, and Pastorino AC
- Subjects
- Adolescent, Agammaglobulinemia complications, Agammaglobulinemia drug therapy, Bronchiectasis etiology, Child, Cohort Studies, Early Diagnosis, Female, Humans, Immunoglobulins, Intravenous administration & dosage, Male, Retrospective Studies, Severity of Illness Index, Time Factors, Tomography, X-Ray Computed, Young Adult, Agammaglobulinemia diagnosis, Bronchiectasis diagnosis
- Abstract
Objective:: To describe clinical features, tomographic findings and pulmonary function in pediatric patients with primary hypogammaglobulinemia (PH)., Method:: A retrospective cohort study of children with PH who received intravenous immunoglobulin (IVIG) and prophylactic antibiotics between 2005 and 2010. Epidemiological and clinical features, computed tomography (CT) findings, and spirometric data were compared, assuming a 5% significance level., Results:: We evaluated 30 patients with PH. After the start of IVIG replacement, there was a decline in the frequency of pneumonia (p<0.001). The 11 patients with bronchiectasis in their first CT scan were older at diagnosis (p=0.001) and had greater diagnostic delay (p=0.001) compared to patients without bronchiectasis. At the end of the study, 18 patients had bronchiectasis and 27 also had other lung disorders, alone or in combination. The Bhalla score was applied to the last CT scan of 16 patients, with a median score of 11 (range 7-21), with a positive correlation between the score and the number of pneumonias after the start of treatment (r=0.561; p=0.024). The score was also correlated with forced expiratory volume in one second (FEV1) and forced vital capacity (FVC) values in 13/16 patients, with negative correlation to FEV1 previously to bronchodilator (r=-0.778; p=0.002) and after bronchodilator (r =-0.837; p<0.001) and FVC (r=-0.773; p=0.002)., Conclusion:: Pulmonary complications were common in this cohort, despite the decrease in the frequency of pneumonia with treatment. Early investigation of patients with recurrent infections for primary immunodeficiencies can reduce the frequency of these complications. The monitoring of changes in spirometry may indicate the need to carry out radiological investigation.
- Published
- 2016
- Full Text
- View/download PDF
19. Primary immunodeficiency diseases in different age groups: a report on 1,008 cases from a single Brazilian reference center.
- Author
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Carneiro-Sampaio M, Moraes-Vasconcelos D, Kokron CM, Jacob CM, Toledo-Barros M, Dorna MB, Watanabe LA, Marinho AK, Castro AP, Pastorino AC, Silva CA, Ferreira MD, Rizzo LV, Kalil JE, and Duarte AJ
- Subjects
- Adolescent, Adult, Age Factors, Brazil, Child, Child, Preschool, Female, Humans, Immunoglobulin A genetics, Immunoglobulin M genetics, Immunologic Deficiency Syndromes immunology, Infant, Infant, Newborn, Male, Phagocytes pathology, Population Groups, Prevalence, Immunologic Deficiency Syndromes epidemiology, Sex Factors
- Abstract
Primary immunodeficiencies (PIDs) represent a large group of diseases that affect all age groups. Although PIDs have been recognized as rare diseases, there is epidemiological evidence suggesting that their real prevalence has been underestimated. We performed an evaluation of a series of 1,008 infants, children, adolescents and adults with well-defined PIDs from a single Brazilian center, regarding age at diagnosis, gender and PID category according to the International Union of Immunological Societies classification. Antibody deficiencies were the most common category in the whole series (61 %) for all age groups, with the exception of <2-year-old patients (only 15 %). In the >30-year-old group, antibody deficiencies comprised 84 % of the diagnoses, mostly consisting of common variable immunodeficiency, IgA deficiency and IgM deficiency. Combined immunodeficiencies represented the most frequent category in <2-years-old patients. Most congenital defects of phagocytes were identified in patients <5 -years of age, as were the diseases of immune dysregulation, with the exception of APECED. DiGeorge syndrome and ataxia-telangiectasia were the most frequent entities in the category of well-defined syndromes, which were mostly identified in patients <10-years of age. Males represented three-quarters and two-thirds of <2 -years-old and 2-5-years -old patients, respectively, whereas females predominated among the >30-year-old patients. Our data indicated that some PIDs were only detected at early ages, likely because affected patients do not survive long. In addition, our data pointed out that different strategies should be used to search for PIDs in infants and young children as compared to older patients.
- Published
- 2013
- Full Text
- View/download PDF
20. Pulmonary responses to tracheal or esophageal acidification in guinea pigs with airway inflammation.
- Author
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Lopes FD, Alvarenga GS, Quiles R, Dorna MB, Vieira JE, Dolhnikoff M, and Martins MA
- Subjects
- Airway Resistance drug effects, Animals, Elasticity, Esophagus drug effects, Guinea Pigs, Hydrochloric Acid pharmacology, Male, Reference Values, Respiratory Mechanics drug effects, Trachea drug effects, Esophagus physiopathology, Hydrochloric Acid administration & dosage, Lung physiopathology, Pneumonia physiopathology, Trachea physiopathology
- Abstract
The association between asthma and gastroesophageal reflux has been attributed to microaspiration of gastric contents and/or vagally mediated reflex bronchoconstriction. In previous experimental studies concerning the pulmonary effects of tracheal or esophageal acid infusion, only animals without airway inflammation have been studied. We assessed the effects of esophageal and tracheal administration of hydrochloric acid (HCl) on normal guinea pigs (GP) and GP with airway inflammation induced by repeated ovalbumin exposures. These GP were anesthetized (pentobarbital sodium) and received 1) 20 microl of either 0.2 N HCl or saline into the trachea, or 2) 1 ml of either 1 N HCl or saline into the esophagus. Intratracheal HCl resulted in a significant increase in both respiratory system elastance and resistance (P < 0.001). There were no significant changes in respiratory mechanics when HCl was infused into the esophagus. In conclusion, we observed that infusion of large volumes of HCl into the esophagus did not change pulmonary mechanics significantly, even in guinea pigs with chronic allergen-induced airway inflammation. In contrast, intratracheal administration of small amounts of acid had substantial effects in normal GP and GP with airway inflammation.
- Published
- 2002
- Full Text
- View/download PDF
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