42 results on '"Moraes-Vasconcelos D"'
Search Results
2. Characterization of the cellular immunity in patients presenting extensive dermatophytoses due to Trichophyton rubrum
- Author
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Bressani, V. O., Santi, T. N., Domingues-Ferreira, M., Almeida, A., Duarte, A. J. S., and Moraes-Vasconcelos, D.
- Published
- 2013
- Full Text
- View/download PDF
3. Hereditary angioedema: first report of the Brazilian registry and challenges
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Grumach, A. S., Valle, S. O.R., Toledo, E., de Moraes Vasconcelos, D., Villela, M. M.S., Mansour, E., Pinto, J. A., Campos, R. A., and França, A. T.
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- 2013
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4. Molecular Characterization of Patients with X-linked Hyper-IgM Syndrome: Description of Two Novel CD40L Mutations
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Rangel-Santos, A., Wakim, V. L., Jacob, C. M., Pastorino, A. C., Cunha, J. M., Collanieri, A. C., Niemela, J. E., Grumach, A. S., Duarte, A. J. S., Moraes-Vasconcelos, D., and Oliveira, J. B.
- Published
- 2009
5. Deficiency of the Human Complement Regulatory Protein Factor H Associated with Low Levels of Component C9
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Falcão, D. A., Reis, E. S., Paixão-Cavalcante, D., Amano, M. T., Delcolli, M. I. M. V., Florido, M. P. C., Albuquerque, J. A. T., Moraes-Vasconcelos, D., Duarte, A. J., Grumach, A. S., and Isaac, L.
- Published
- 2008
6. Immunological Analysis in Paediatric HIV Patients at Different Stages of the Disease
- Author
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Lian, Y. C., Della-Negra, M., Rutz, R., Ferriani, V., de Moraes Vasconcelos, D., da Silva Duarte, A. J., Kirschfink, M., and Grumach, A. S.
- Published
- 2004
7. Characterization of the cellular immune function of patients with chronic mucocutaneous candidiasis
- Author
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De Moraes-Vasconcelos, D., Orii, N. M., Romano, C. C., Iqueoka, R. Y., and Duarte, A. J. Da S.
- Published
- 2001
8. Detection of influenza, parainfluenza, adenovirus and respiratory syncytial virus during asthma attacks in children older than 2 years old
- Author
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Azevedo, A.M.N., Durigon, E.L., Okasima, V., Queiroz, D.A.O., de Moraes-Vasconcelos, D., Duarte, A.J.S., and Grumach, A.S.
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- 2003
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9. Severe Pulmonary Alveolar Proteinosis in a Patient with GATA2 Deficiency
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Béder, T.N., primary, Correa de Almeida, G., additional, Del Carlo Bernardi, F., additional, Samano, M.N., additional, Minamoto, H., additional, Arimura, F.E., additional, Carvalho, C.R.R., additional, de Moraes Vasconcelos, D., additional, and Kairalla, R.A., additional
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- 2019
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10. IRF8 mutations and human dendritic-cell immunodeficiency
- Author
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Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, Fortin A, Haniffa M, Ceron-Gutierrez L, Bacon CM, Menon G, Trouillet C, McDonald D, Carey P, Ginhoux F, Alsina L, Zumwalt TJ, Kong XF, Kumararatne D, Butler K, Hubeau M, Feinberg J, Al-Muhsen S, Cant A, Abel L, Chaussabel D, Doffinger R, Talesnik E, Grumach A, Duarte A, Abarca K, Moraes-Vasconcelos D, Burk D, Berghuis A, Geissmann F, Collin M, Casanova JL, and Gros P
- Published
- 2011
11. BCGosis: A Warning Sign for Primary Immunodeficiency
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de Moraes Vasconcelos, D, Dorna, Mb, Grumach, As, Chuffi Barros, N, Domingues Ferreira, M, Pessoa, Fpg, Giliani, Silvia Clara, Orii, Nm, and Duarte, As
- Published
- 2010
12. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor ß1 deficiency: Medical and immunological implications
- Author
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Fieschi C., Dupuis S., Catherinot E., Feinberg J., Bustamante J., Breiman A., Altare F., Baretto R., Le Deist F., Kayal S., Koch H., Richter D., Brezina M., Aksu G., Wood P., Al-Jumaah S., Raspall M., Da Silva Duarte A.J., Tuerlinckx D., Virelizier J.-L., Fischer A., Enright A., Bernhöft J., Cleary A.M., Vermylen C., Rodriguez-Gallego C., Davies G., Blütters-Sawatzki R., Siegrist C.-A., Ehlayel M.S., Novelli V., Haas W.H., Levy J., Freihorst J., Al-Hajjar S., Nadal D., De Moraes Vasconcelos D., Jeppsson O., Kutukculer N., Frecerova K., Caragol I., Lammas D., Kumararatne D.S., Abel L., Casanova J.-L., and Ege Üniversitesi
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ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS ,ComputingMethodologies_PATTERNRECOGNITION ,Interferon ? ,MycobacteriaSalmonella ,ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS ,Immunodeficiency ,InformationSystems_MISCELLANEOUS ,Interleukin 12 receptor - Abstract
PubMed ID: 12591909, The clinical phenotype of interleukin 12 receptor ß1 chain (IL-12Rß1) deficiency and the function of human IL-12 in host defense remain largely unknown, due to the small number of patients reported. We now report 41 patients with complete IL-12Rß1 deficiency from 17 countries. The only opportunistic infections observed, in 34 patients, were of childhood onset and caused by weakly virulent Salmonella or Mycobacteria (Bacille Calmette-Guérin-BCG- and environmental Mycobacteria). Three patients had clinical tuberculosis, one of whom also had salmonellosis. Unlike salmonellosis, mycobacterial infections did not recur. BCG inoculation and BCG disease were both effective against subsequent environmental mycobacteriosis, but not against salmonellosis. Excluding the probands, seven of the 12 affected siblings have remained free of case-definition opportunistic infection. Finally, only five deaths occurred in childhood, and the remaining 36 patients are alive and well. Thus, a diagnosis of IL-12Rß1 deficiency should be considered in children with opportunistic mycobacteriosis or salmonellosis; healthy siblings of probands and selected cases of tuberculosis should also be investigated. The overall prognosis is good due to broad resistance to infection and the low penetrance and favorable outcome of infections. Unexpectedly, human IL-12 is redundant in protective immunity against most microorganisms other than Mycobacteria and Salmonella. Moreover, IL-12 is redundant for primary immunity to Mycobacteria and Salmonella in many individuals and for secondary immunity to Mycobacteria but not to Salmonella in most.
- Published
- 2003
13. AB1107 Hereditary autoinflammatory syndromes in brazil: A multicenter study
- Author
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Jesus, A.A., primary, Fujihira, E., additional, Watase, M., additional, Terreri, M.T., additional, Hilario, M.O.E., additional, Carneiro-Sampaio, M., additional, Len, C.A., additional, Oliveira, S.K., additional, Rodrigues, M.C., additional, Pereira, R.M., additional, Bica, B., additional, Silva, N.A., additional, Cavalcante, A., additional, Marini, R., additional, Sztajnbok, F., additional, Quintero, M.V., additional, Ferriani, V., additional, Moraes-Vasconcelos, D., additional, Silva, C.A., additional, and Oliveira, J.B., additional
- Published
- 2013
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14. Characterization of the cellular immunity in patients presenting extensive dermatophytoses due to Trichophyton rubrum
- Author
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Bressani, V. O., primary, Santi, T. N., additional, Domingues‐Ferreira, M., additional, Almeida, A., additional, Duarte, A. J. S., additional, and Moraes‐Vasconcelos, D., additional
- Published
- 2012
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15. Hereditary angioedema (HAE) in Brazil: Registry of 120 cases
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Grumach, A.S., primary, Correia, A. Pires, additional, Valle, S., additional, França, A.T., additional, Pinto, J.A., additional, Constantino-Silva, R.N., additional, Mansour, E., additional, Zollner, R., additional, Vilela, M.M.S., additional, Moyses, T.R., additional, Andrade, M.E.B., additional, Fernandes, F.R., additional, Tebyriçá, J., additional, Tebyriçá, C., additional, Jacob, C.M., additional, Rosario, N., additional, Di Gesu, R., additional, Di Gesu, G., additional, Benedicto, C., additional, Geller, M., additional, Wolff, P.G., additional, Porto, C., additional, Moraes-Vasconcelos, D., additional, and Duarte, A.J.S., additional
- Published
- 2007
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16. Complement and specific antibody response in HIV-Negative patients with neurocryptococcosis
- Author
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Arruk, V.G., primary, Rocha, K.C., additional, Pinhal, C., additional, Moraes-Vasconcelos, D., additional, Duarte, A.J.S., additional, and Grumach, A.S., additional
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- 2007
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17. Arg127His substitution in SCR-2 of the regulatory complement protein Factor H is found in a factor H deficient patient with concomitant lack of complement component C9
- Author
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Falcão, D.A., primary, Reis, E.S., additional, Amano, M.T., additional, Albuquerque, J.A.T., additional, Delcolli, M.I.V., additional, Paixão-Cavalcante, D., additional, Florido, M.P.C., additional, Moraes-Vasconcelos, D., additional, Grumach, A.S., additional, and Isaac, L., additional
- Published
- 2007
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18. Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin (IL)-12/IL-23 Receptor
- Author
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de Moraes-Vasconcelos, D., primary, Grumach, A. S., additional, Yamaguti, A., additional, Andrade, M. E. B., additional, Fieschi, C., additional, de Beaucoudrey, L., additional, Casanova, J.-L., additional, and Duarte, A. J. S., additional
- Published
- 2005
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19. Arg 127His substitution in SCR-2 of the regulatory complement protein Factor H is found in a factor H deficient patient with concomitant lack of complement component C9
- Author
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Falcão, D.A., Reis, E.S., Amano, M.T., Albuquerque, J.A.T., Delcolli, M.I.V., Paixão-Cavalcante, D., Florido, M.P.C., Moraes-Vasconcelos, D., Grumach, A.S., and Isaac, L.
- Published
- 2007
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20. The Most Frequent Primary Immunodeficiency Diseases (PIDDs) in Different Age Groups
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Carneiro-Sampaio, M., Jacob, C. M. Abe, Pastorino, A. C., Watanabe, L., Dorna, M., Doria-Filho, U., Cristina Kokron, Toledo-Barros, M., Moraes-Vasconcelos, D., and Duarte, A.
21. Primary Immunodeficiency Diseases in A Single Tertiary University Hospital in Sao Paulo, Brazil
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Moraes-Vasconcelos, D., Toledo Barros, M. M., Abe Jacob, C., Cristina Kokron, Grumach, A. S., Dorna, M. B., Domingues-Ferreira, M., Pastorino, A. C., Rizzo, L. V., Silva Duarte, A., Kalil, J. E., and Carneiro-Sampaio, M. M.
22. Lymphocyte transformation assay for C neoformans antigen is not reliable for detecting cellular impairment in patients with Neurocryptococcosis
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Rocha Katya C, Pinhal Cinthia, Cavalcanti Sônia, Vidal Monica SM, Toscano Matheus, Moraes-Vasconcelos Dewton, Duarte Alberto JS, Fonseca Fernando LA, de Abreu Luiz, Valenti Vitor E, and Grumach Anete SG
- Subjects
Lymphocytes ,Antigens ,Biases, Statistical ,Cryptococcus ,Methods ,Cryptococcus neoformans ,Infectious and parasitic diseases ,RC109-216 - Abstract
Abstract Background Cryptococcus neoformans causes meningitis and disseminated infection in healthy individuals, but more commonly in hosts with defective immune responses. Cell-mediated immunity is an important component of the immune response to a great variety of infections, including yeast infections. We aimed to evaluate a specific lymphocyte transformation assay to Cryptococcus neoformans in order to identify immunodeficiency associated to neurocryptococcosis (NCC) as primary cause of the mycosis. Methods Healthy volunteers, poultry growers, and HIV-seronegative patients with neurocryptococcosis were tested for cellular immune response. Cryptococcal meningitis was diagnosed by India ink staining of cerebrospinal fluid and cryptococcal antigen test (Immunomycol-Inc, SP, Brazil). Isolated peripheral blood mononuclear cells were stimulated with C. neoformans antigen, C. albicans antigen, and pokeweed mitogen. The amount of 3H-thymidine incorporated was assessed, and the results were expressed as stimulation index (SI) and log SI, sensitivity, specificity, and cut-off value (receiver operating characteristics curve). We applied unpaired Student t tests to compare data and considered significant differences for p Results The lymphotoxin alpha showed a low capacity with all the stimuli for classifying patients as responders and non-responders. Lymphotoxin alpha stimulated by heated-killed antigen from patients with neurocryptococcosis was not affected by TCD4+ cell count, and the intensity of response did not correlate with the clinical evolution of neurocryptococcosis. Conclusion Response to lymphocyte transformation assay should be analyzed based on a normal range and using more than one stimulator. The use of a cut-off value to classify patients with neurocryptococcosis is inadequate. Statistical analysis should be based on the log transformation of SI. A more purified antigen for evaluating specific response to C. neoformans is needed.
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- 2012
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23. Arg127His substitution in SCR-2 of the regulatory complement protein Factor H is found in a factor H deficient patient with concomitant lack of complement component C9
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Falcão, D.A., Reis, E.S., Amano, M.T., Albuquerque, J.A.T., Delcolli, M.I.V., Paixão-Cavalcante, D., Florido, M.P.C., Moraes-Vasconcelos, D., Grumach, A.S., and Isaac, L.
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- 2007
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24. Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing.
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do Nascimento RRNR, Quaio CRDC, Chung CH, de Moraes Vasconcelos D, Sztajnbok FR, Rosa Neto NS, and Perazzio SF
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- Humans, High-Throughput Nucleotide Sequencing, Rheumatology, Exome Sequencing, Neuromuscular Diseases genetics, Neuromuscular Diseases diagnosis, Hereditary Autoinflammatory Diseases genetics, Hereditary Autoinflammatory Diseases diagnosis, Rheumatologists, Genetic Testing methods, Rheumatic Diseases genetics, Rheumatic Diseases diagnosis
- Abstract
Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently, substantial cost reductions have facilitated access to these diagnostic tools, expanded the capacity of molecular diagnostics and enabled the pursuit of precision medicine in rheumatology. Understanding the fundamental principles of genetics and diversity in genetic variant classification is a crucial milestone in rheumatology. However, despite the growing availability of DNA sequencing platforms, a significant number of autoinflammatory diseases (AIDs), neuromuscular disorders, hereditary collagen diseases, and monogenic bone diseases remain unsolved, and variants of uncertain significance (VUS) pose a formidable challenge to addressing these unmet needs in the coming decades. This article aims to provide an overview of the clinical indications and interpretation of comprehensive genetic testing in the medical field, addressing the related complexities and implications., (© 2024. The Author(s).)
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- 2024
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25. A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity.
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Perazzio SF, Palmeira P, Moraes-Vasconcelos D, Rangel-Santos A, de Oliveira JB, Andrade LEC, and Carneiro-Sampaio M
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- Cell Culture Techniques, Early Diagnosis, Enzyme-Linked Immunosorbent Assay, Flow Cytometry, Humans, Nephelometry and Turbidimetry, Quality Assurance, Health Care, Reference Standards, Clinical Laboratory Techniques standards, Immunoassay standards, Primary Immunodeficiency Diseases diagnosis
- Abstract
Inborn errors of immunity (IEI), which were previously termed primary immunodeficiency diseases, represent a large and growing heterogeneous group of diseases that are mostly monogenic. In addition to increased susceptibility to infections, other clinical phenotypes have recently been associated with IEI, such as autoimmune disorders, severe allergies, autoinflammatory disorders, benign lymphoproliferative diseases, and malignant manifestations. The IUIS 2019 classification comprises 430 distinct defects that, although rare individually, represent a group affecting a significant number of patients, with an overall prevalence of 1:1,200-2,000 in the general population. Early IEI diagnosis is critical for appropriate therapy and genetic counseling, however, this process is deeply dependent on accurate laboratory tests. Despite the striking importance of laboratory data for clinical immunologists, several IEI-relevant immunoassays still lack standardization, including standardized protocols, reference materials, and external quality assessment programs. Moreover, well-established reference values mostly remain to be determined, especially for early ages, when the most severe conditions manifest and diagnosis is critical for patient survival. In this article, we intend to approach the issue of standardization and quality control of the nonfunctional diagnostic tests used for IEI, focusing on those frequently utilized in clinical practice. Herein, we will focus on discussing the issues of nonfunctional immunoassays (flow cytometry, enzyme-linked immunosorbent assays, and turbidimetry/nephelometry, among others), as defined by the pure quantification of proteins or cell subsets without cell activation or cell culture-based methods., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Perazzio, Palmeira, Moraes-Vasconcelos, Rangel-Santos, de Oliveira, Andrade and Carneiro-Sampaio.)
- Published
- 2021
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26. Contribution of Complement System pathways to the killing of Leptospira spp.
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Alves da Silva PYO, Midon LM, Heinemann MB, de Moraes Vasconcelos D, Barbosa AS, and Isaac L
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- Complement System Proteins immunology, Humans, Immune Evasion, Leptospira pathogenicity, Microbial Viability immunology, Complement Activation, Leptospira immunology, Leptospirosis immunology
- Abstract
The Complement System (CS) plays an important role in the immune response against leptospirosis and can be activated by the Alternative and Lectin Pathways (Innate Immunity) and by the Classical Pathway (Acquired Immunity). Here we analyzed a broad range of nonpathogenic and pathogenic Leptospira strains considering their interaction with each CS pathway. We determined bacterial survival rate and CS protein deposition in the presence of purified proteins, specific component depleted sera and NHS treated with the chelating agents EDTA (inhibits all three activation pathways) or EGTA (inhibits the Classical and Lectin Pathways). We suggest that the Lectin and the Alternative Pathways have an important role to eliminate saprophytic leptospires since i) approximately 50% survival of both saprophytic strains was observed in the presence of MBL-deficient serum; ii) approximately 50% survival of Leptospira biflexa Patoc I was observed in the presence of NHS - EGTA and iii) C1q-depleted serum caused significant bacterial lysis. In all serovars investigated the deposition of C5-C9 proteins on saprophytic Leptospira strains was more pronounced when compared to pathogenic species confirming previous studies in the literature. No difference on C3 deposition was observed between nonpathogenic and pathogenic strains. In conclusion, Leptospira strains interact to different degrees with CS proteins, especially those necessary to form MAC, indicating that some strains and specific ligands could favor the binding of certain CS proteins., Competing Interests: Declaration of Competing Interest The authors declared that they have no conflict of interest., (Copyright © 2020. Published by Elsevier Masson SAS.)
- Published
- 2020
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27. Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach.
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Boton Pereira DH, Primo LS, Pelizari G, Flores E, de Moraes-Vasconcelos D, Condino-Neto A, and Prestes-Carneiro LE
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- Adolescent, Adult, Brazil epidemiology, Child, Child, Preschool, Early Diagnosis, Female, Geography, Humans, Immunologic Deficiency Syndromes diagnosis, Infant, Male, Middle Aged, Quality of Life, Retrospective Studies, Young Adult, Immunologic Deficiency Syndromes epidemiology, Immunologic Deficiency Syndromes physiopathology
- Abstract
Background: Primary immunodeficiencies (PIDs) are rare genetic disorders leading to immunologic abnormalities that can affect different organs and systems. We determined the epidemiology, clinical, and geospatial characteristics of PID disorders among patients diagnosed over a 5 year period in a reference hospital covering a mesoregion in São Paulo, Brazil. Methods: A retrospective analysis of 39 patients with recognizable PIDs according to the criteria of the European Society of Primary Immunodeficiencies were enrolled. Thirty-four patients came from outpatient immunodeficiency clinics and five patients from active search. Demographic, clinical, and immunologic data were collected, and maps were constructed using a geographic information system. Results: The ratio of females to males was 1.4:1, and 48.7% of patients were younger than 17 years of age. The mean age at the onset of symptoms in children was 2.0 years [standard error of the mean (SEM), 1.7 years] and the diagnosis lag was 5.1 years (SEM, 3.1 years); the mean age at diagnosis in adults was 16.3 years (SEM, 11.8 years) and the lag was 10.8 years (SEM, 10.9 years). Antibody deficiency and common variable immunodeficiencies were the most common categories and phenotypes, respectively. The need for intravenous antibiotics and respiratory tract infections were the most prevalent warning signs, with an overall mortality rate of 15.3%. Autoimmune diseases were diagnosed in 56.4% and visceral leishmaniasis in 5.1% of patients. In the active search, 29 patients were investigated and 17.2% were diagnosed; early diagnosis, the involvement of multidisciplinary professionals, and dissemination of knowledge achieved milestone benefits. The distribution of PID networks in Brazil shows great asymmetry between regions and at a regional level; it was shown that the patients lived mainly in Presidente Prudente municipality. Conclusions: The implementation of an immunodeficiency outpatient clinic in a referral hospital covering a mesoregion with a large population has led to the generation of policies and practices to improve the diagnosis, quality of life, and care of patients with PIDs and their families. Furthermore, the search for hospitalized patients with warning signs for PIDs showed great benefits. Inequality in the distribution of PID network centers in Brazil was demonstrated., (Copyright © 2020 Boton Pereira, Primo, Pelizari, Flores, Moraes-Vasconcelos, Condino-Neto and Prestes-Carneiro.)
- Published
- 2020
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28. Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.
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Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schröder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, and Casanova JL
- Subjects
- Animals, Antigens, Differentiation, B-Lymphocyte metabolism, Cells, Cultured, HLA Antigens metabolism, Histocompatibility Antigens Class II metabolism, Humans, Immunity, Immunologic Memory, Infant, Interferon-gamma metabolism, Lymphadenopathy, Male, Membrane Proteins genetics, Mice, Mice, Inbred C57BL, Mice, Knockout, Mutation genetics, Mycobacterium Infections genetics, Vaccination, Aspartic Acid Endopeptidases genetics, Aspartic Acid Endopeptidases metabolism, Dendritic Cells immunology, Membrane Proteins metabolism, Mycobacterium Infections immunology, Mycobacterium bovis physiology, Mycobacterium tuberculosis physiology, Th1 Cells immunology, Tuberculosis immunology
- Abstract
Human inborn errors of IFN-γ immunity underlie mycobacterial diseases. We describe patients with Mycobacterium bovis (BCG) disease who are homozygous for loss-of-function mutations of SPPL2A. This gene encodes a transmembrane protease that degrades the N-terminal fragment (NTF) of CD74 (HLA invariant chain) in antigen-presenting cells. The CD74 NTF therefore accumulates in the HLA class II
+ myeloid and lymphoid cells of SPPL2a-deficient patients. This toxic fragment selectively depletes IL-12- and IL-23-producing CD1c+ conventional dendritic cells (cDC2s) and their circulating progenitors. Moreover, SPPL2a-deficient memory TH 1* cells selectively fail to produce IFN-γ when stimulated with mycobacterial antigens in vitro. Finally, Sppl2a-/- mice lack cDC2s, have CD4+ T cells that produce small amounts of IFN-γ after BCG infection, and are highly susceptible to infection with BCG or Mycobacterium tuberculosis. These findings suggest that inherited SPPL2a deficiency in humans underlies mycobacterial disease by decreasing the numbers of cDC2s and impairing IFN-γ production by mycobacterium-specific memory TH 1* cells.- Published
- 2018
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29. Th17 pathway in recent-onset autoimmune diabetes.
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Fores JP, Crisostomo LG, Orii NM, Santos AS, Fukui RT, Matioli SR, de Moraes Vasconcelos D, and Silva MERD
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- Adolescent, Alleles, Brazil, CD4-Positive T-Lymphocytes metabolism, Child, Child, Preschool, Female, Gene Frequency genetics, Humans, Infant, Interleukin-17 analysis, Interleukin-17 blood, Male, Receptors, Interleukin-17 analysis, Receptors, Interleukin-17 blood, Receptors, Interleukin-17 genetics, Signal Transduction immunology, Signal Transduction physiology, Diabetes Mellitus, Type 1 metabolism, Interleukin-17 metabolism, Th17 Cells metabolism
- Abstract
Aims: Evaluate the participation of IL-17 pathway in T1D pathogenesis. T helper 17 cells are potent, highly inflammatory cells that produce interleukin 17A (IL-17A), considered a mediator of various immune disorders. However, their role in Type 1 diabetes (T1D) pathogenesis in humans is not totally elucidated., Methods: The expression of IL-17 Receptor A (IL-17RA) in peripheral T lymphocytes and IL-17A serum levels in recent-onset patients with T1D were compared with healthy controls. IL-17A gene variants were evaluated in a greater cohort., Results: Patients with recent-onset T1D (less than 6 months of diagnosis) exhibited lower expression of IL-17RA in CD3+ T (% of cells = 31.3% × 43.6%; p = .041) and CD4+ T cells (11.1% × 25.2%; p = .0019) and lower number of IL-17RA in CD4+ T cells (MFI = 1.16 × 4.56; p = .03) than controls. IL-17RA expression in CD8+ T cells and IL-17A serum levels were similar in both groups. The coding regions and boundary intron sequences of IL17A were sequenced. Seventeen allelic variants, including three novel variants in exon 3 (3'UTR n) were identified, but no one was associated with T1D susceptibility, as well as the resulting haplotypes and diplotypes. The expression of IL-17RA was not correlated with metabolic variables (glucose and HbA1c levels) or pancreatic autoantibodies titers., Conclusions: The lower expression of IL-17RA in CD3+ and CD4+ T cells suggests a reduced effect of IL-17A in immune response of recent-onset T1D patients, at least at peripheral tissues. IL-17A allelic variants were not related with T1D susceptibility., (Copyright © 2017 Elsevier Inc. All rights reserved.)
- Published
- 2018
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30. Binding of human complement C1 sterase inhibitor to Leptospira spp.
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Breda LCD, Vasconcellos SA, de Moraes Vasconcelos D, and Isaac L
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- Animals, Complement Activation, Complement C1 Inhibitor Protein genetics, Complement C4b-Binding Protein metabolism, Complement Factor H metabolism, Food Chain, Humans, Immune Evasion, Leptospiraceae pathogenicity, Vaccines, Attenuated, Virulence, Vitronectin metabolism, Zoonoses, Complement C1 metabolism, Complement C1 Inhibitor Protein metabolism, Leptospiraceae immunology, Leptospirosis immunology
- Abstract
Leptospirosis is an important zoonosis of global importance caused by bacteria Leptospira spp. Pathogenic Leptospira is resistant to Complement System killing while non-pathogenic Leptospira is rapidly killed by exposure to normal human serum (NHS). Pathogenic Leptospira interact with Complement Regulators such as Factor H, C4b binding protein and Vitronectin avoiding Complement activation and killing by Alternative and Classical Pathways. One important regulator is C1-inhibitor (C1INH) that interacts with C1s or MASPs controlling the cleavage of C4 and C2 molecules, thereby inhibiting the activation of the Classical and Lectin Pathways. In this study, we demonstrate that attenuated, saprophytic and pathogenic Leptospira interact with C1INH that maintain its regulatory capacity of interaction with C1s preventing the activation of Complement system. Although the interaction with C1INH is not crucial for pathogenic Leptospira survival, it seems to be important for the survival of attenuated and saprophytic Leptospira in normal human serum., (Copyright © 2017 Elsevier GmbH. All rights reserved.)
- Published
- 2018
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31. Chemokine, cytokine and type I interferon production induced by Toll-like receptor activation in common variable immune deficiency.
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Lollo C, de Moraes Vasconcelos D, Oliveira LMDS, Domingues R, Carvalho GC, Duarte AJDS, and Sato MN
- Subjects
- Adult, Aged, Cells, Cultured, Chemokines blood, Chemokines metabolism, Common Variable Immunodeficiency blood, Common Variable Immunodeficiency metabolism, Cytokines blood, Cytokines metabolism, Female, Humans, Imidazoles pharmacology, Interferon Type I biosynthesis, Interferon Type I blood, Leukocytes, Mononuclear immunology, Leukocytes, Mononuclear metabolism, Ligands, Lipopolysaccharides pharmacology, Male, Middle Aged, Oligodeoxyribonucleotides pharmacology, Poly I-C pharmacology, Quinolines pharmacology, Toll-Like Receptor 4 agonists, Toll-Like Receptor 4 immunology, Toll-Like Receptor 4 metabolism, Toll-Like Receptor 7 agonists, Toll-Like Receptor 7 immunology, Toll-Like Receptor 7 metabolism, Toll-Like Receptor 8 agonists, Toll-Like Receptor 8 immunology, Toll-Like Receptor 8 metabolism, Toll-Like Receptor 9 agonists, Toll-Like Receptor 9 immunology, Toll-Like Receptor 9 metabolism, Toll-Like Receptors agonists, Toll-Like Receptors metabolism, Young Adult, Chemokines immunology, Common Variable Immunodeficiency immunology, Cytokines immunology, Interferon Type I immunology, Toll-Like Receptors immunology
- Abstract
Common variable immunodeficiency (CVID) is the most common symptomatic primary antibody deficiency and is associated with recurrent infections and chronic inflammatory diseases. We evaluated the ability of Toll-like receptor (TLR) ligands to induce secretion of chemokines, cytokines and type I interferons by peripheral blood mononuclear cells (PBMCs) from CVID patients. High levels of CXCL10, CCL2, CXCL9, CCL5, CXCL8, and IL-6 were detected in sera of CVID patients compared with healthy controls. Increased chemokine levels were observed in unstimulated PBMCs, but after stimulation with TLR2 and TLR4 agonists, equivalent chemokine and pro-inflammatory cytokine secretion, as in healthy controls, was observed, whereas TLR4 agonist induced a decreased secretion of CCL2 and CXCL8 and increased secretion of TNF. Decreased IFN-α secretion induced by TLR7/TLR8 activation was observed in CVID, which was recovered with TLR9 signaling. Our findings revealed that TLR9 activation has an adjuvant effect on the altered type I response in CVID., (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Published
- 2016
- Full Text
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32. Impaired CD8(+) T cell responses upon Toll-like receptor activation in common variable immunodeficiency.
- Author
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de Lollo C, de Moraes Vasconcelos D, da Silva Oliveira LM, de Oliveira Titz T, Carneiro-Sampaio M, Jacob CM, da Silva Duarte AJ, and Sato MN
- Subjects
- ADP-ribosyl Cyclase 1 metabolism, Adult, Aged, Biomarkers metabolism, Cytokines metabolism, Demography, Female, Humans, Lymphocyte Activation immunology, Lymphocyte Count, Male, Middle Aged, T-Lymphocytes, Regulatory immunology, Toll-Like Receptors agonists, Young Adult, CD8-Positive T-Lymphocytes immunology, Common Variable Immunodeficiency immunology, Toll-Like Receptors metabolism
- Abstract
Background: Infections caused by bacteria or viruses are frequent in common variable immunodeficiency (CVID) patients due to antibody deficiencies, which may be associated with altered T cell function. CVID patients are frequently in contact with pathogen-associated molecular patterns (PAMPs), leading to the activation of innate immunity through Toll-like receptors (TLR) affecting T cell activation. We evaluated the effect of TLR activation on T cells in CVID patients undergoing intravenous immunoglobulin (IVIg) replacement using synthetic ligands., Methods: Expression of exhaustion, activation and maturation markers on T cells from peripheral blood as well as regulatory T cells and follicular T cells in peripheral blood mononuclear cells (PBMCs) from CVID and healthy individuals were evaluated by flow cytometry. PBMCs cultured with TLR agonists were assessed for intracellular IFN-γ, TNF, IL-10, IL-17a or IL-22 secretion as monofunctional or polyfunctional T cells (simultaneous cytokine secretion) by flow cytometry., Results: We found increased expression of the exhaustion marker PD-1 on effector memory CD4(+) T cells (CD45RA(-)CCR7(-)) in the peripheral blood and increased expression of CD38 in terminally differentiated CD8(+) T cells (CD45RA(+)CCR7(-)). Furthermore, a decreased frequency of naïve regulatory T cells (CD45RA(+)Foxp3(low)), but not of activated regulatory T cells (CD45RA(-)Foxp3(high)) was detected in CVID patients with splenomegaly, the non-infectious manifestation in this CVID cohort (43.7 %). Moreover, the frequency of peripheral blood follicular helper T cells (CD3(+)CD4(+)CXCR5(+)PD-1(+)ICOS(+)) was similar between the CVID and control groups. Upon in vitro TLR3 activation, a decreased frequency of CD8(+) T cells secreting IFN-γ, IL-17a or IL-22 was detected in the CVID group compared to the control group. However, a TLR7/TLR8 agonist and staphylococcal enterotoxin B induced an increased Th22/Tc22 (IL-22(+), IFN-γ(-), IL-17a(-)) response in CVID patients. Both TLR2 and TLR7/8/CL097 activation induced an increased response of CD4(+) T cells secreting three cytokines (IL-17a, IL-22 and TNF)in CVID patients, whereas CD8(+) T cells were unresponsive to these stimuli., Conclusion: The data show that despite the unresponsive profile of CD8(+) T cells to TLR activation, CD4(+) T cells and Tc22/Th22 cells are responsive, suggesting that activation of innate immunity by TLRs could be a strategy to stimulate CD4(+) T cells in CVID.
- Published
- 2016
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33. 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
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34. Intermittent rash, lymph node swelling, arthralgia and vaccinal viral detection after rubella immunization.
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Gualberto FA, Curti SP, de Oliveira MI, Moraes-Vasconcelos D, and Figueiredo CA
- Subjects
- Adult, Blood virology, Female, Humans, Oropharynx virology, Rubella virus isolation & purification, Urine virology, Arthralgia epidemiology, Exanthema epidemiology, Lymphadenitis epidemiology, Rubella Vaccine administration & dosage, Rubella Vaccine adverse effects, Vaccination adverse effects, Virus Shedding
- Published
- 2013
- Full Text
- View/download PDF
35. Hereditary autoinflammatory syndromes: a Brazilian multicenter study.
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Jesus AA, Fujihira E, Watase M, Terreri MT, Hilario MO, Carneiro-Sampaio M, Len CA, Oliveira SK, Rodrigues MC, Pereira RM, Bica B, Silva NA, Cavalcanti A, Marini R, Sztajnbok F, Quintero MV, Ferriani VP, Moraes-Vasconcelos D, Silva CA, and Oliveira JB
- Subjects
- Brazil, Carrier Proteins genetics, Cytoskeletal Proteins genetics, Female, Humans, Male, Mutation, NLR Family, Pyrin Domain-Containing 3 Protein, Nod2 Signaling Adaptor Protein genetics, Phosphotransferases (Alcohol Group Acceptor) genetics, Pyrin, Receptors, Tumor Necrosis Factor, Type I genetics, Hereditary Autoinflammatory Diseases diagnosis, Hereditary Autoinflammatory Diseases genetics
- Abstract
Objective: To evaluate the prevalence of genetic defects in clinically suspected autoinflammatory syndromes (AIS) in a Brazilian multicenter study., Methods: The study included 102 patients with a clinical diagnosis of Cryopyrin Associated Periodic Syndromes (CAPS), TNF Receptor Associated Periodic Syndrome (TRAPS), Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiency (MKD) and Pediatric Granulomatous Arthritis (PGA). One of the five AIS-related genes (NLRP3, TNFRSF1A, MEFV, MVK and NOD2) was evaluated in each patient by direct DNA sequencing, based on the most probable clinical suspect., Results: Clinical diagnoses of the 102 patients were: CAPS (n = 28), TRAPS (n = 31), FMF (n = 17), MKD (n = 17) and PGA (n = 9). Of them, 27/102 (26 %) had a confirmed genetic diagnosis: 6/28 (21 %) CAPS patients, 7/31 (23 %) TRAPS, 3/17 (18 %) FMF, 3/17 (18 %) MKD and 8/9 (89 %) PGA., Conclusion: We have found that approximately one third of the Brazilian patients with a clinical suspicion of AIS have a confirmed genetic diagnosis.
- Published
- 2012
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36. Chronic mucocutaneous candidiasis and systemic lupus erythematosus: a new variant of chronic mucocutaneous candidiasis?
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de Moraes-Vasconcelos D, Domingues-Ferreira M, de Campos Pieri P, and da Silva Duarte AJ
- Subjects
- Adult, Esophagoscopy, Esophagus pathology, Female, Foot pathology, Humans, Scalp pathology, Skin pathology, Candidiasis, Chronic Mucocutaneous complications, Candidiasis, Chronic Mucocutaneous pathology, Lupus Erythematosus, Systemic complications, Lupus Erythematosus, Systemic pathology
- Abstract
Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to Candida infection of skin, nails, and mucous membranes. Autoimmune endocrinopathies are common in CMC patients, but there are no reports of the involvement of systemic autoimmune disorders. We present here the first case of this kind of association in a patient with an autosomal dominant variant of CMC. The individual had had this disorder since childhood and systemic lupus erythematosus with secondary antiphospholipid syndrome, as well as renal, articular and hepatic manifestations without thymoma.
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- 2012
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37. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
- Author
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de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus Ç, Asilsoy S, Camcioglu Y, Gülle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, and Casanova JL
- Subjects
- Adolescent, Adult, Age Factors, Child, Child, Preschool, Cytokines blood, Female, Genotype, Humans, Infant, Infant, Newborn, Interleukin-12 Receptor beta 1 Subunit genetics, Male, Middle Aged, Mycobacterium Infections, Nontuberculous epidemiology, Mycobacterium Infections, Nontuberculous genetics, Mycobacterium bovis isolation & purification, Mycobacterium tuberculosis isolation & purification, Nontuberculous Mycobacteria isolation & purification, Survival Analysis, Interleukin-12 Receptor beta 1 Subunit deficiency
- Abstract
Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.
- Published
- 2010
- Full Text
- View/download PDF
38. Esophageal cancer associated with chronic mucocutaneous candidiasis. Could chronic candidiasis lead to esophageal cancer?
- Author
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Domingues-Ferreira M, Grumach AS, Duarte AJ, and De Moraes-Vasconcelos D
- Subjects
- Adult, Candida, Candidiasis, Chronic Mucocutaneous immunology, Candidiasis, Chronic Mucocutaneous microbiology, Humans, Immunologic Deficiency Syndromes complications, Immunologic Deficiency Syndromes immunology, Lymphocyte Activation immunology, Male, Candidiasis, Chronic Mucocutaneous complications, Carcinoma, Squamous Cell etiology, Esophageal Neoplasms etiology
- Abstract
Chronic mucocutaneous candidiasis (CMC) is a rare disease associated with immunodeficiency and characterized by persistent and refractory infections of the skin, appendages and mucous membranes caused by members of the genus Candida. Several different disorders are classified under this common denominator, including chronic and recurrent mucocutaneous infections due to Candida spp., which are sometimes linked to autoimmune endocrinopathies. These fungal infections are usually confined to the mucocutaneous surface, with little propensity for systemic disease or septicemia. We describe a patient with CMC who had an esophageal candidiasis refractory to treatment for decades and who developed an epidermoid esophageal cancer. No risk factors such as familiar susceptibility, smoking, alcohol drinking, or living in an endemic area were verified. This case report suggests the participation of nitrosamine compounds produced by chronic Candida infections as a risk factor for esophageal cancer in a patient with autosomal-dominant chronic mucocutaneous candidiasis.
- Published
- 2009
- Full Text
- View/download PDF
39. Retinoic acid inhibits dendritic cell differentiation driven by interleukin-4.
- Author
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de Sousa-Canavez JM, de Oliveira Massoco C, de Moraes-Vasconcelos D, Corneta EC, Leite KR, and Camara-Lopes LH
- Subjects
- Cell Differentiation physiology, Dendritic Cells metabolism, Dendritic Cells physiology, Granulocyte-Macrophage Colony-Stimulating Factor pharmacology, Humans, Keratolytic Agents pharmacology, Phagocytosis drug effects, Phagocytosis physiology, Respiratory Burst drug effects, Respiratory Burst physiology, Tumor Necrosis Factor-alpha pharmacology, Cell Differentiation drug effects, Dendritic Cells drug effects, Interleukin-4 pharmacology, Tretinoin pharmacology
- Abstract
All-trans-retinoic acid (atRA) appears to affect Th1-Th2 differentiation and its effects on immune responses might also be mediated by dendritic cell (DC). Nonetheless, studies have been showing contradictory results since was observed either induction or inhibition of DC differentiation. Our aim was to investigate atRA action on human monocyte derived DC differentiation. For this purpose we tested pharmacological and physiological doses of atRA with or without cytokines. Cell phenotypes were analyzed by flow cytometry and function was investigated by phagocytosis and respiratory burst. DC, positive control group, was differentiated with GM-CSF and IL-4 and maturated with TNF-alpha. We demonstrated that atRA effects depend on the dose used as pharmacological doses inhibited expression of all phenotypic markers tested while a physiological dose caused cell differentiation. However, atRA combined or not with cytokines did not promote DC differentiation. In fact, atRA was detrimental on IL-4 property as a DC inductor.
- Published
- 2009
- Full Text
- View/download PDF
40. Evaluation of dendritic cell-tumor cell hybrid vaccine storage.
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de Sousa-Canavez JM, de Moraes-Vasconcelos D, Corneta EC, Leite KR, and Camara-Lopes LH
- Abstract
Clinical trials using dendritic cells (DCs) to treat cancer patients have generated promising results in recent years. However, even simple aspects of this therapy are still not well understood, including the storage and distribution of manufactured vaccines. These processes are essential and must be elucidated in order to reduce costs. We evaluated the effects of different storage conditions on vaccine functionality using mixed lymphocyte reaction (MLR). Vaccine storage at 4°C for up to 72 h had no significant effect on vaccine activity. Shipping to distant places is possible, if vaccines are kept at 4°C and used up to 3 days after manufacture date.
- Published
- 2008
- Full Text
- View/download PDF
41. Schnitzler's syndrome without monoclonal gammopathy.
- Author
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Varella TC, Nishimura MY, Machado MC, de Moraes-Vasconcelos D, and Rivitti EA
- Subjects
- Adult, Anti-Inflammatory Agents, Non-Steroidal administration & dosage, Arthralgia complications, Arthralgia drug therapy, Diagnosis, Differential, Drug Therapy, Combination, Humans, Male, Prednisone administration & dosage, Syndrome, Thalidomide administration & dosage, Urticaria etiology, Urticaria pathology, Arthralgia diagnosis, Immunoglobulin M
- Published
- 2005
- Full Text
- View/download PDF
42. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.
- Author
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Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A, Altare F, Baretto R, Le Deist F, Kayal S, Koch H, Richter D, Brezina M, Aksu G, Wood P, Al-Jumaah S, Raspall M, Da Silva Duarte AJ, Tuerlinckx D, Virelizier JL, Fischer A, Enright A, Bernhöft J, Cleary AM, Vermylen C, Rodriguez-Gallego C, Davies G, Blütters-Sawatzki R, Siegrist CA, Ehlayel MS, Novelli V, Haas WH, Levy J, Freihorst J, Al-Hajjar S, Nadal D, De Moraes Vasconcelos D, Jeppsson O, Kutukculer N, Frecerova K, Caragol I, Lammas D, Kumararatne DS, Abel L, and Casanova JL
- Subjects
- Adolescent, Adult, Cells, Cultured, Child, Child, Preschool, Humans, Mutation, Mycobacterium Infections immunology, Opportunistic Infections immunology, Polymorphism, Single-Stranded Conformational, Receptors, Interleukin genetics, Receptors, Interleukin physiology, Receptors, Interleukin-12, Salmonella Infections immunology, Immunity, Innate, Receptors, Interleukin deficiency
- Abstract
The clinical phenotype of interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency and the function of human IL-12 in host defense remain largely unknown, due to the small number of patients reported. We now report 41 patients with complete IL-12Rbeta1 deficiency from 17 countries. The only opportunistic infections observed, in 34 patients, were of childhood onset and caused by weakly virulent Salmonella or Mycobacteria (Bacille Calmette-Guérin -BCG- and environmental Mycobacteria). Three patients had clinical tuberculosis, one of whom also had salmonellosis. Unlike salmonellosis, mycobacterial infections did not recur. BCG inoculation and BCG disease were both effective against subsequent environmental mycobacteriosis, but not against salmonellosis. Excluding the probands, seven of the 12 affected siblings have remained free of case-definition opportunistic infection. Finally, only five deaths occurred in childhood, and the remaining 36 patients are alive and well. Thus, a diagnosis of IL-12Rbeta1 deficiency should be considered in children with opportunistic mycobacteriosis or salmonellosis; healthy siblings of probands and selected cases of tuberculosis should also be investigated. The overall prognosis is good due to broad resistance to infection and the low penetrance and favorable outcome of infections. Unexpectedly, human IL-12 is redundant in protective immunity against most microorganisms other than Mycobacteria and Salmonella. Moreover, IL-12 is redundant for primary immunity to Mycobacteria and Salmonella in many individuals and for secondary immunity to Mycobacteria but not to Salmonella in most.
- Published
- 2003
- Full Text
- View/download PDF
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