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319 results on '"Costa-Carvalho, Beatriz"'

1. Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study

Author

Pereira, Renan A., Dantas, Ellen O., Loekmanwidjaja, Jessica, Mazzucchelli, Juliana T. L., Aranda, Carolina S., Serrano, Maria E. G., De La Cruz Córdoba, Elisabeth A., Bezrodnik, Liliana, Moreira, Ileana, Ferreira, Janaira F. S., Dantas, Vera M., Sales, Valéria S. F., Fernandez, Carmen C., Vilela, Maria M. S., Motta, Isabela P., Franco, Jose Luis, Arango, Julio Cesar Orrego, Álvarez-Álvarez, Jesús A., Cardozo, Lina Rocío Riaño, Orellana, Julio C., Condino-Neto, Antonio, Kokron, Cristina M., Barros, Myrthes T., Regairaz, Lorena, Cabanillas, Diana, Suarez, Carmen L. N., Rosario, Nelson A., Chong-Neto, Herberto J., Takano, Olga A., Nadaf, Maria I. S. V., Moraes, Lillian S. L., Tavares, Fabiola S., Rabelo, Flaviane, Pino, Jessica, Calderon, Wilmer C., Mendoza-Quispe, Daniel, Goudouris, Ekaterini S., Patiño, Virginia, Montenegro, Cecilia, Souza, Monica S., Branco, Aniela BXCCastelo, Forte, Wilma C. N., Carvalho, Flavia A. A., Segundo, Gesmar, Cheik, Marina F. A., Roxo-Junior, Persio, Peres, Maryanna, Oliveira, Annie M., Neto, Arnaldo C. P., Ortega-López, Maria Claudia, Lozano, Alejandro, Lozano, Natalia Andrea, Nieto, Leticia H., Grumach, Anete S., Costa, Daniele C., Antunes, Nelma M. N., Nudelman, Victor, Pereira, Camila T. M., Martinez, Maria D. M., Quiroz, Francisco J. R., Cardona, Aristoteles A., Nuñez-Nuñez, Maria E., Rodriguez, Jairo A., Cuellar, Célia M., Vijoditz, Gustavo, Bichuetti-Silva, Daniélli C., Prando, Carolina C. M., Amantéa, Sérgio L., and Costa-Carvalho, Beatriz T.

Published
2024
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3. SCID and Other Inborn Errors of Immunity with Low TRECs — the Brazilian Experience

Author

Barreiros, Lucila Akune, Sousa, Jusley Lira, Geier, Christoph, Leiss-Piller, Alexander, Kanegae, Marilia Pylles Patto, França, Tábata Takahashi, Boisson, Bertrand, Lima, Alessandra Miramontes, Costa-Carvalho, Beatriz Tavares, Aranda, Carolina Sanchez, de Moraes-Pinto, Maria Isabel, Segundo, Gesmar Rodrigues Silva, Ferreira, Janaira Fernandes Severo, Tavares, Fabíola Scancetti, Guimarães, Flávia Alice Timburiba de Medeiros, Toledo, Eliana Cristina, da Matta Ain, Ana Carolina, Moreira, Iramirton Figueirêdo, Soldatelli, Gustavo, Grumach, Anete Sevciovic, de Barros Dorna, Mayra, Weber, Cristina Worm, Di Gesu, Regina Sumiko Watanabe, Dantas, Vera Maria, Fernandes, Fátima Rodrigues, Torgerson, Troy Robert, Ochs, Hans Dietrich, Bustamante, Jacinta, Walter, Jolan Eszter, and Condino-Neto, Antonio

Published
2022
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4. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Author

Farmer, Jocelyn R, Foldvari, Zsofia, Ujhazi, Boglarka, De Ravin, Suk See, Chen, Karin, Bleesing, Jack JH, Schuetz, Catharina, Al-Herz, Waleed, Abraham, Roshini S, Joshi, Avni Y, Costa-Carvalho, Beatriz T, Buchbinder, David, Booth, Claire, Reiff, Andreas, Ferguson, Polly J, Aghamohammadi, Asghar, Abolhassani, Hassan, Puck, Jennifer M, Adeli, Mehdi, Cancrini, Caterina, Palma, Paolo, Bertaina, Alice, Locatelli, Franco, Di Matteo, Gigliola, Geha, Raif S, Kanariou, Maria G, Lycopoulou, Lilia, Tzanoudaki, Marianna, Sleasman, John W, Parikh, Suhag, Pinero, Gloria, Fischer, Bernard M, Dbaibo, Ghassan, Unal, Ekrem, Patiroglu, Turkan, Karakukcu, Musa, Al-Saad, Khulood Khalifa, Dilley, Meredith A, Pai, Sung-Yun, Dutmer, Cullen M, Gelfand, Erwin W, Geier, Christoph B, Eibl, Martha M, Wolf, Hermann M, Henderson, Lauren A, Hazen, Melissa M, Bonfim, Carmem, Wolska-Kuśnierz, Beata, Butte, Manish J, Hernandez, Joseph D, Nicholas, Sarah K, Stepensky, Polina, Chandrakasan, Shanmuganathan, Miano, Maurizio, Westermann-Clark, Emma, Goda, Vera, Kriván, Gergely, Holland, Steven M, Fadugba, Olajumoke, Henrickson, Sarah E, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Kiykim, Ayca, Bredius, Robbert, Hoeger, Birgit, Boztug, Kaan, Pashchenko, Olga, Neven, Benedicte, Moshous, Despina, Villartay, Jean-Pierre de, Bousfiha, Ahmed Aziz, Hill, Harry R, Notarangelo, Luigi D, and Walter, Jolan E

Subjects
Autoimmune Disease, Genetics, Hematology, Inflammatory and immune system, Adolescent, Adult, Autoimmunity, Child, Child, Preschool, Female, Hematopoietic Stem Cell Transplantation, Homeodomain Proteins, Humans, Immunologic Deficiency Syndromes, Immunosuppressive Agents, Infant, Inflammation, Male, Middle Aged, Treatment Outcome, Young Adult, Recombination activating gene, Severe combined immunodeficiency, Immune dysregulation, Autoimmune cytopenias, Hematopoietic stem cell transplantation
Abstract

BACKGROUND:Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. OBJECTIVE:Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. METHODS:In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. RESULTS:Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. CONCLUSIONS:Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management.

Published
2019

5. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.

Author

de la Morena, M Teresa, Leonard, David, Torgerson, Troy R, Cabral-Marques, Otavio, Slatter, Mary, Aghamohammadi, Asghar, Chandra, Sharat, Murguia-Favela, Luis, Bonilla, Francisco A, Kanariou, Maria, Damrongwatanasuk, Rongras, Kuo, Caroline Y, Dvorak, Christopher C, Meyts, Isabelle, Chen, Karin, Kobrynski, Lisa, Kapoor, Neena, Richter, Darko, DiGiovanni, Daniela, Dhalla, Fatima, Farmaki, Evangelia, Speckmann, Carsten, Español, Teresa, Shcherbina, Anna, Hanson, Imelda Celine, Litzman, Jiri, Routes, John M, Wong, Melanie, Fuleihan, Ramsay, Seneviratne, Suranjith L, Small, Trudy N, Janda, Ales, Bezrodnik, Liliana, Seger, Reinhard, Raccio, Andrea Gomez, Edgar, J David M, Chou, Janet, Abbott, Jordan K, van Montfrans, Joris, González-Granado, Luis Ignacio, Bunin, Nancy, Kutukculer, Necil, Gray, Paul, Seminario, Gisela, Pasic, Srdjan, Aquino, Victor, Wysocki, Christian, Abolhassani, Hassan, Dorsey, Morna, Cunningham-Rundles, Charlotte, Knutsen, Alan P, Sleasman, John, Costa Carvalho, Beatriz Tavares, Condino-Neto, Antonio, Grunebaum, Eyal, Chapel, Helen, Ochs, Hans D, Filipovich, Alexandra, Cowan, Mort, Gennery, Andrew, Cant, Andrew, Notarangelo, Luigi D, and Roifman, Chaim M

Subjects
Humans, Hematopoietic Stem Cell Transplantation, Proportional Hazards Models, Retrospective Studies, Cohort Studies, Follow-Up Studies, Time, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, Female, Male, Hyper-IgM Immunodeficiency Syndrome, Young Adult, Kaplan-Meier Estimate, CD40 ligand, Karnofsky/Lansky scores, X-linked hyper-IgM syndrome, defects in class-switch recombination, hematopoietic cell transplantation, long-term outcomes, primary immunodeficiency, Pediatric, Clinical Research, Transplantation, Inflammatory and immune system, Good Health and Well Being, Immunology, Allergy
Abstract

BackgroundX-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects. Hematopoietic cell transplantation (HCT) has been considered a curative therapy, but the procedure has inherent complications and might not be available for all patients.ObjectivesWe sought to collect data on the clinical presentation, treatment, and follow-up of a large sample of patients with XHIGM to (1) compare long-term overall survival and general well-being of patients treated with or without HCT along with clinical factors associated with mortality and (2) summarize clinical practice and risk factors in the subgroup of patients treated with HCT.MethodsPhysicians caring for patients with primary immunodeficiency diseases were identified through the Jeffrey Modell Foundation, United States Immunodeficiency Network, Latin American Society for Immunodeficiency, and Primary Immune Deficiency Treatment Consortium. Data were collected with a Research Electronic Data Capture Web application. Survival from time of diagnosis or transplantation was estimated by using the Kaplan-Meier method compared with log-rank tests and modeled by using proportional hazards regression.ResultsTwenty-eight clinical sites provided data on 189 patients given a diagnosis of XHIGM between 1964 and 2013; 176 had valid follow-up and vital status information. Sixty-seven (38%) patients received HCT. The average follow-up time was 8.5 ± 7.2 years (range, 0.1-36.2 years). No difference in overall survival was observed between patients treated with or without HCT (P = .671). However, risk associated with HCT decreased for diagnosis years 1987-1995; the hazard ratio was significantly less than 1 for diagnosis years 1995-1999. Liver disease was a significant predictor of overall survival (hazard ratio, 4.9; 95% confidence limits, 2.2-10.8; P

Published
2017

6. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Author

Walter, Jolan E, Rosen, Lindsey B, Csomos, Krisztian, Rosenberg, Jacob M, Mathew, Divij, Keszei, Marton, Ujhazi, Boglarka, Chen, Karin, Lee, Yu Nee, Tirosh, Irit, Dobbs, Kerry, Al-Herz, Waleed, Cowan, Morton J, Puck, Jennifer, Bleesing, Jack J, Grimley, Michael S, Malech, Harry, De Ravin, Suk See, Gennery, Andrew R, Abraham, Roshini S, Joshi, Avni Y, Boyce, Thomas G, Butte, Manish J, Nadeau, Kari C, Balboni, Imelda, Sullivan, Kathleen E, Akhter, Javeed, Adeli, Mehdi, El-Feky, Reem A, El-Ghoneimy, Dalia H, Dbaibo, Ghassan, Wakim, Rima, Azzari, Chiara, Palma, Paolo, Cancrini, Caterina, Capuder, Kelly, Condino-Neto, Antonio, Costa-Carvalho, Beatriz T, Oliveira, Joao Bosco, Roifman, Chaim, Buchbinder, David, Kumanovics, Attila, Franco, Jose Luis, Niehues, Tim, Schuetz, Catharina, Kuijpers, Taco, Yee, Christina, Chou, Janet, Masaad, Michel J, Geha, Raif, Uzel, Gulbu, Gelman, Rebecca, Holland, Steven M, Recher, Mike, Utz, Paul J, Browne, Sarah K, and Notarangelo, Luigi D

Subjects
Animals, Mice, Inbred Strains, Humans, Mice, Virus Diseases, Granulomatous Disease, Chronic, Severe Combined Immunodeficiency, Autoimmune Diseases, Disease Models, Animal, DNA-Binding Proteins, Homeodomain Proteins, Nuclear Proteins, Autoantibodies, Autoantigens, Cytokines, Antibody Specificity, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Toll-Like Receptors, DEAD-box RNA Helicases, Young Adult, Antibodies, Neutralizing, Interferon-Induced Helicase, IFIH1, Autoimmune Disease, Genetics, Biotechnology, Infectious Diseases, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Medical and Health Sciences, Immunology
Abstract

Patients with mutations of the recombination-activating genes (RAG) present with diverse clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and inflammation. However, the incidence and extent of immune dysregulation in RAG-dependent immunodeficiency have not been studied in detail. Here, we have demonstrated that patients with hypomorphic RAG mutations, especially those with delayed-onset combined immune deficiency and granulomatous/autoimmune manifestations (CID-G/AI), produce a broad spectrum of autoantibodies. Neutralizing anti-IFN-α or anti-IFN-ω antibodies were present at detectable levels in patients with CID-G/AI who had a history of severe viral infections. As this autoantibody profile is not observed in a wide range of other primary immunodeficiencies, we hypothesized that recurrent or chronic viral infections may precipitate or aggravate immune dysregulation in RAG-deficient hosts. We repeatedly challenged Rag1S723C/S723C mice, which serve as a model of leaky SCID, with agonists of the virus-recognizing receptors TLR3/MDA5, TLR7/-8, and TLR9 and found that this treatment elicits autoantibody production. Altogether, our data demonstrate that immune dysregulation is an integral aspect of RAG-associated immunodeficiency and indicate that environmental triggers may modulate the phenotypic expression of autoimmune manifestations.

Published
2015

7. Latin American consensus on the supportive management of patients with severe combined immunodeficiency

Author

Bustamante Ogando, Juan Carlos, Partida Gaytán, Armando, Aldave Becerra, Juan Carlos, Álvarez Cardona, Aristóteles, Bezrodnik, Liliana, Borzutzky, Arturo, Blancas Galicia, Lizbeth, Cabanillas, Diana, Condino-Neto, Antonio, De Colsa Ranero, Agustín, Espinosa Padilla, Sara, Fernandes, Juliana Folloni, García Campos, Jorge Alberto, Gómez Tello, Héctor, González Serrano, María Edith, Gutiérrez Hernández, Alonso, Hernández Bautista, Víctor Manuel, Ivankovich Escoto, Gabriele, King, Alejandra, Lessa Mazzucchelli, Juliana, Llamas Guillén, Beatriz Adriana, Lugo Reyes, Saul Oswaldo, Moreno Espinosa, Sarbelio, Oleastro, Matías, Otero Mendoza, Francisco, Poli Harlowe, María Cecilia, Porras, Oscar, Ramirez Uribe, Nideshda, Regairaz, Lorean, Rivas Larrauri, Francisco, Saracho Weber, Federico José, Grumach, Anete S., Staines Boone, Tamara, Tavares Costa-Carvalho, Beatriz, Yamazaki Nakashimada, Marco Antonio, and Espinosa Rosales, Francisco Javier

Published
2019
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8. Ataxia Telangiectasia in Latin America: clinical features, immunodeficiency and mortality in a multicenter study

Author

Pereira, Renan Augusto, primary, Dantas, Ellen O, additional, Loekmanwidjaja, Jessica, additional, Mazzucchelli, Juliana T L, additional, Aranda, Carolina S, additional, Serrano, Maria E G, additional, Bezrodnik, Liliana, additional, Moreira, Ileana, additional, Ferreira, Janaira F S, additional, Dantas, Vera M, additional, Sales, Valéria S F, additional, Fernandez, Carmen C, additional, Vilela, Maria M S, additional, Motta, Isabela P, additional, Franco, Jose Luis, additional, Arango, Julio Cesar Orrego, additional, Álvarez-Álvarez, Jesús A, additional, Cardozo, Lina Rocío Riaño, additional, Orellana, Julio C, additional, Condino-Neto, Antonio, additional, Kokron, Cristina M, additional, Barros, Myrthes T, additional, Regairaz, Lorena, additional, Cabanillas, Diana, additional, Suarez, Carmen L N, additional, Rosario, Nelson A, additional, Chong-Neto, Herberto J, additional, Takano, Olga A, additional, Nadaf, Maria I S V, additional, Moraes, Lillian S L, additional, Tavares, Fabiola S, additional, Rabelo, Flaviane, additional, Pino, Jessica, additional, Calderon, Wilmer C, additional, Mendoza-Quispe, Daniel, additional, Goudouris, Ekaterine S, additional, Patiño, Virginia, additional, Montenegro, Cecilia, additional, Souza, Monica S, additional, Branco, Aniela B X C Castelo, additional, Forte, Wilma C N, additional, Carvalho, Flavia A A, additional, Segundo, Gesmar, additional, Cheik, Marina F A, additional, Roxo-Junior, Persio, additional, Peres, Maryanna, additional, Oliveira, Annie M, additional, Neto, Arnaldo C P, additional, Ortega-López, Maria Claudia, additional, Lozano, Alejandro, additional, Lozano, Natalia Andrea, additional, Nieto, Leticia H, additional, Grumach, Anete S, additional, Costa, Daniele C, additional, Antunes, Nelma M N, additional, Nudelman, Victor, additional, Pereira, Camila T M, additional, Martinez, Maria D M, additional, Quiroz, Francisco J R, additional, Cardona, Aristoteles A, additional, Nuñes-Nuñes, Maria E, additional, Rodriguez, Jairo A, additional, Cuellar, Célia M, additional, Vijoditz, Gustavo, additional, Bichuetti-Silva, Daniélli C, additional, Prando, Carolina C M, additional, Amantéa, Sérgio L, additional, Costa-Carvalho, Beatriz T, additional, and Córdoba, Elizabeth A De La Cruz, additional

Published
2023
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10. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Author

Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., and Picard, Capucine

Published
2017
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11. Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries

Author

Fernandes, Juliana Folloni, Nichele, Samantha, Daudt, Liane E., Tavares, Rita B., Seber, Adriana, Kerbauy, Fábio R., Koliski, Adriana, Loth, Gisele, Vieira, Ana K., Darrigo-Junior, Luiz G., Rocha, Vanderson, Gomes, Alessandra A., Colturato, Vergílio, Mantovani, Luiz F., Ribeiro, Andreza F., Ribeiro, Lisandro L., Kuwahara, Cilmara, Rodrigues, Ana L. M., Zecchin, Victor G., Costa-Carvalho, Beatriz T., Carneiro-Sampaio, Magda, Condino-Neto, Antonio, Fasth, Anders, Gennery, Andrew, Pasquini, Ricardo, Hamerschlak, Nelson, and Bonfim, Carmem

Published
2018
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14. Neonatal screening for severe combined immunodeficiency in Brazil

Author

Kanegae, Marilia Pyles Patto, Barreiros, Lucila Akune, Mazzucchelli, Juliana Themudo Lessa, Hadachi, Sonia Marchezi, Guilhoto, Laura Maria de Figueiredo Ferreira, Acquesta, Ana Lúcia, Genov, Isabel Rugue, Holanda, Silvia Maia, Di Gesu, Regina Sumiko Watanabe, Goulart, Ana Lucia, Santos, Amélia Miyashiro Nunes dos, Bellesi, Newton, Costa‐Carvalho, Beatriz Tavares, and Condino‐Neto, Antonio

Published
2016
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25. Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-γ

Author

Cabral-Marques, Otavio, Ramos, Rodrigo Nalio, Schimke, Lena F., Khan, Taj Ali, Amaral, Eduardo Pinheiro, Barbosa Bomfim, Caio César, Junior, Osvaldo Reis, França, Tabata Takahashi, Arslanian, Christina, Carola Correia Lima, Joanna Darck, Weber, Cristina Worm, Ferreira, Janaíra Fernandes, Tavares, Fabiola Scancetti, Sun, Jing, DʼImperio Lima, Maria Regina, Seelaender, Marília, Garcia Calich, Vera Lucia, Marzagão Barbuto, José Alexandre, Costa-Carvalho, Beatriz Tavares, Riemekasten, Gabriela, Seminario, Gisela, Bezrodnik, Liliana, Notarangelo, Luigi, Torgerson, Troy R., Ochs, Hans D., and Condino-Neto, Antonio

Published
2017
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27. Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry

Author

de Oliveira-Junior, Edgar Borges, Zurro, Nuria Bengala, Prando, Carolina, Cabral-Marques, Otavio, Pereira, Paulo Vitor Soeiro, Schimke, Lena-Friederick, Klaver, Stefanie, Buzolin, Marcia, Blancas-Galicia, Lizbeth, Santos-Argumedo, Leopoldo, Pietropaolo-Cienfuegos, Dino Roberto, Espinosa-Rosales, Francisco, King, Alejandra, Sorensen, Ricardo, Porras, Oscar, Roxo-Junior, Persio, Forte, Wilma Carvalho Neves, Orellana, Julio Cesar, Lozano, Alejandro, Galicchio, Miguel, Regairaz, Lorena, Grumach, Anete Sevciovic, Costa-Carvalho, Beatriz Tavares, Bustamante, Jacinta, Bezrodnik, Liliana, Oleastro, Matias, Danielian, Silvia, and Condino-Neto, Antonio

Published
2015
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28. The Latin American Society for Immunodeficiencies Registry

Author

Seminario, Gisela, Gonzalez-Serrano, Maria Edith, Aranda, Carolina Sanchez, Grumach, Anete Sevciovic, Segundo, Gesmar Rodrigues Silva, Regairaz, Lorena, Cardona, Aristoteles Alvares, Becerra, Juan Carlos Aldave, Poli, Cecilia, King, Alejandra, Fernandes, Fatima Rodrigues, Leiva, Lily, Franco, Jose Luis, Espinosa-Rosales, Francisco Javier, Sorensen, Ricardo, Costa Carvalho, Beatriz Tavares, Bezrodnik, Liliana, and Condino-Neto, Antonio

Published
2025
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33. Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID Registry

Author

LEIVA, LILY E., ZELAZCO, MARTA, OLEASTRO, MATÍAS, CARNEIRO-SAMPAIO, MAGDA, CONDINO-NETO, ANTONIO, COSTA-CARVALHO, BEATRIZ TAVARES, GRUMACH, ANETE SEVCIOVIC, QUEZADA, ARNOLDO, PATIÑO, PABLO, FRANCO, JOSÉ LUIS, PORRAS, OSCAR, RODRÍGUEZ, FRANCISCO JAVIER, ESPINOSA-ROSALES, FRANCISCO JAVIER, ESPINOSA-PADILLA, SARA ELVA, ALMILLATEGUI, DIVA, MARTÍNEZ, CELIA, TAFUR, JUAN RODRÍGUEZ, VALENTÍN, MARILYN, BENARROCH, LORENA, BARROSO, ROSY, and SORENSEN, RICARDO U.

Published
2007
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34. Pediatric allergy and immunology in Brazil

Author

Rosario-Filho, Nelson A., Jacob, Cristina M., Sole, Dirceu, Condino-Neto, Antonio, Arruda, Luisa K., Costa-Carvalho, Beatriz, Cocco, Renata R., Camelo-Nunes, Inês, Chong-Neto, Herberto J., Wandalsen, Gustavo F., Castro, Ana P. M., Yang, Ariana C., Pastorino, Antonio C., and Sarinho, Emanuel S.

Published
2013
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40. Gamaglobulin infusion in patients with severe atopic dermatitis

Author

Caputo, Marina Medeiros, primary, Silva, Pamela Pittelkow, additional, Pittelkow, Pâmela, additional, Ayres Bastos, Patricia Guerzet, additional, Guerzet, Patrícia, additional, Japiassú, Laís Gomes, additional, Japiassú, Laís, additional, Mallozi, Marcia C., additional, Aranda, Carolina S., additional, Costa-Carvalho, Beatriz Tavares, additional, Lessa Mazzucchelli, Juliana Themudo, additional, and Sole, Dirceu, additional

Published
2019
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41. CLINICAL AND LABORATORY EVALUATION OF PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY (CVID)

Author

Manhaes, Isabella B., primary, Camilo, Gabriele F., additional, Cancado, Barbara Luiza B., additional, Gontijo, Julio Cesar, additional, Pereira, Renan Augusto, additional, Moraes, Marília M., additional, Marino, Luiza M., additional, Perazzio, Sandro F., additional, Aranda, Carolina S., additional, Lessa Mazzucchelli, Juliana Themudo, additional, Sole, Dirceu, additional, and Costa-Carvalho, Beatriz Tavares, additional

Published
2019
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42. Poor specific antibody response in patients with mucopolysaccaridosis

Author

Moraes, Marilia M., primary, Manhaes, Isabella B., additional, Marino, Luiza M., additional, Gontijo, Julio Cesar, additional, Cancado, Barbara Luiza B., additional, Pereira, Renan Augusto, additional, Dantas, Ellen, additional, Aranda, Carolina S., additional, Martins, Ana Maria, additional, Sole, Dirceu, additional, and Costa-Carvalho, Beatriz Tavares, additional

Published
2019
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43. II Brazilian Consensus on the use of human immunoglobulin in patients with primary immunodeficiencies

Author

Goudouris, Ekaterini Simões, Silva, Almerinda Maria do Rego, Ouricuri, Aluce Loureiro, Grumach, Anete Sevciovic, Condino-Neto, Antonio, Costa-Carvalho, Beatriz Tavares, Prando, Carolina Cardoso de Mello, Kokron, Cristina Maria, Vasconcelos, Dewton de Moraes, Tavares, Fabíola Scancetti, Silva Segundo, Gesmar Rodrigues, Barreto, Irma Cecília Douglas Paes, Dorna, Mayra de Barros, Barros, Myrthes Anna Maragna Toledo, and Forte, Wilma Carvalho Neves

Subjects
Immunoglobulins, intravenous, Síndromes de imunodeficiência, Doenças do sistema imune, Imunoglobulinas, Imunoglobulinas intravenosas, Imunização passiva, Immunoglobulins, Immune system diseases, Immunization, passive, Immunologic deficiency syndromes
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. RESUMO Nos últimos anos, novas imunodeficiências primárias e defeitos genéticos têm sido descritos. Recentemente, produtos de imunoglobulina, com aprimoramento em sua composição e para uso por via subcutânea, tornaram-se disponíveis em nosso meio. Com o objetivo de orientar o médico no uso da imunoglobulina humana para o tratamento das imunodeficiências primárias, os membros do Grupo de Assessoria em Imunodeficiências da Associação Brasileira de Alergia e Imunologia produziram um documento que teve por base uma revisão narrativa da literatura e sua experiência profissional, atualizando o I Consenso Brasileiro publicado em 2010. Apresentam-se novos conhecimentos sobre indicações e eficácia do tratamento com imunoglobulina nas imunodeficiências primárias, aspectos relevantes sobre a produção, forma de utilização (vias de administração, farmacocinética, doses e intervalos), efeitos adversos (principais efeitos, prevenção, tratamento e notificação), monitorização do paciente, apresentações disponíveis e forma de obtenção deste recurso terapêutico em nosso meio.

Published
2017

44. Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

Author

Boisson-Dupuis, Stéphanie, primary, Ramirez-Alejo, Noe, additional, Li, Zhi, additional, Patin, Etienne, additional, Rao, Geetha, additional, Kerner, Gaspard, additional, Lim, Che Kang, additional, Krementsov, Dimitry N., additional, Hernandez, Nicholas, additional, Ma, Cindy S., additional, Zhang, Qian, additional, Markle, Janet, additional, Martinez-Barricarte, Ruben, additional, Payne, Kathryn, additional, Fisch, Robert, additional, Deswarte, Caroline, additional, Halpern, Joshua, additional, Bouaziz, Matthieu, additional, Mulwa, Jeanette, additional, Sivanesan, Durga, additional, Lazarov, Tomi, additional, Naves, Rodrigo, additional, Garcia, Patricia, additional, Itan, Yuval, additional, Boisson, Bertrand, additional, Checchi, Alix, additional, Jabot-Hanin, Fabienne, additional, Cobat, Aurélie, additional, Guennoun, Andrea, additional, Jackson, Carolyn C., additional, Pekcan, Sevgi, additional, Caliskaner, Zafer, additional, Inostroza, Jaime, additional, Costa-Carvalho, Beatriz Tavares, additional, de Albuquerque, Jose Antonio Tavares, additional, Garcia-Ortiz, Humberto, additional, Orozco, Lorena, additional, Ozcelik, Tayfun, additional, Abid, Ahmed, additional, Rhorfi, Ismail Abderahmani, additional, Souhi, Hicham, additional, Amrani, Hicham Naji, additional, Zegmout, Adil, additional, Geissmann, Frédéric, additional, Michnick, Stephen W., additional, Muller-Fleckenstein, Ingrid, additional, Fleckenstein, Bernhard, additional, Puel, Anne, additional, Ciancanelli, Michael J., additional, Marr, Nico, additional, Abolhassani, Hassan, additional, Balcells, María Elvira, additional, Condino-Neto, Antonio, additional, Strickler, Alexis, additional, Abarca, Katia, additional, Teuscher, Cory, additional, Ochs, Hans D., additional, Reisli, Ismail, additional, Sayar, Esra H., additional, El-Baghdadi, Jamila, additional, Bustamante, Jacinta, additional, Hammarström, Lennart, additional, Tangye, Stuart G., additional, Pellegrini, Sandra, additional, Quintana-Murci, Lluis, additional, Abel, Laurent, additional, and Casanova, Jean-Laurent, additional

Published
2018
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46. CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ

Author

Cabral-Marques, Otavio, primary, França, Tabata Takahashi, additional, Al-Sbiei, Ashraf, additional, Schimke, Lena Friederike, additional, Khan, Taj Ali, additional, Feriotti, Claudia, additional, da Costa, Tania Alves, additional, Junior, Osvaldo Reis, additional, Weber, Cristina Worm, additional, Ferreira, Janaíra Fernandes, additional, Tavares, Fabiola Scancetti, additional, Valente, Claudia, additional, Di Gesu, Regina Sumiko Watanabe, additional, Iqbal, Asif, additional, Riemekasten, Gabriela, additional, Amarante-Mendes, Gustavo Pessini, additional, Marzagão Barbuto, José Alexandre, additional, Costa-Carvalho, Beatriz Tavares, additional, Pereira, Paulo Vitor Soeiro, additional, Fernandez-Cabezudo, Maria J., additional, Calich, Vera Lucia Garcia, additional, Notarangelo, Luigi D., additional, Torgerson, Troy R., additional, al-Ramadi, Basel K., additional, Ochs, Hans D., additional, and Condino-Neto, Antonio, additional

Published
2018
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47. Can a mucopolysaccharidosis also be a primary immunodeficiency?

Author

Aranda, Carolina, primary, Dantas, Ellen Oliveira, additional, Dias, Natalia Vieira, additional, Mazzucchelli, Juliana, additional, Mallozi, Marcia, additional, Wandalsen, Gustavo Falbo, additional, Solé, Dirceu, additional, Costa-Carvalho, Beatriz Tavares, additional, and Martins, Ana Maria, additional

Published
2018
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48. Medical awareness concerning primary immunodeficiency diseases in the city of São Paulo, Brazil

Author

Dantas, Ellen de Oliveira, Aranda, Carolina Sanchez, Nobre, Fernanda Aimée, Fahl, Kristine, Mazzucchelli, Juliana Themudo Lessa, Felix, Erika, Nero, Dora Lisa Friedlander-Del, Nudelman, Victor, Sano, Flavio, Condino-Neto, Antonio, Damasceno, Elaine, and Costa-Carvalho, Beatriz Tavares

Subjects
Questionnaires, Health Knowledge, Attitudes, Practice, Knowledge, Cross-Sectional Studies, Education, Medical, Surveys and Questionnaires, attitudes and practice in healthcare, Immunologic Deficiency Syndromes, Humans, Original Article, Immunodeficiency syndromes, Brazil
Abstract

Objective: To evaluate medical knowledge of primary immunodeficiency in the city of Sao Paulo (SP). Methods: A 14-item questionnaire about primary immunodeficiency was applied to physicians who worked at general hospitals. One of the questions presented 25 clinical situations that could be associated or not with primary immunodeficiency, and the percentage of appropriate answers generated a knowledge indicator. Results: Seven hundred and forty-six participated in the study, among them 215 pediatricians (28.8%), 244 surgeons (32.7%), and 287 clinicians (38.5%). About 70% of the physicians responded that they had learned about primary immunodeficiency in graduate school or in residency training. Treatment of patients that use antibiotics frequently was reported by 75% dos physicians, but only 34.1% had already investigated a patient and 77.8% said they did not know the ten warning signs for primary immunodeficiency. The knowledge indicator obtained showed a mean of 45.72% (±17.87). Only 26.6% if the pediatricians and 6.6% of clinicians and surgeons showed a knowledge indicator of at least 67% (equivalent to an appropriate answer in two thirds of the clinical situations). Conclusion: There is a deficit in medical knowledge of primary immunodeficiency in the city of Sao Paulo, even among pediatricians, despite having greater contact with the theme over the last few years. The improvement of information on primary immunodeficiency in the medical community is an important step towards the diagnosis and treatment process of these diseases.

Published
2013

49. Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication

Author

Aghamohammadi, Asghar, Abolhassani, Hassan, Kutukculer, Necil, Wassilak, Steve G., Pallansch, Mark A., Kluglein, Samantha, Quinn, Jessica, Sutter, Roland W., Wang, Xiaochuan, Sanal, Ozden, Latysheva, Tatiana, Ikinciogullari, Aydan, Bernatowska, Ewa, Tuzankina, Irina A., Costa-Carvalho, Beatriz T., Luis Franco, Jose, Somech, Raz, Karakoc-Aydiner, Elif, Singh, Surjit, Bezrodnik, Liliana, Espinosa-Rosales, Francisco J., Shcherbina, Anna, Lau, Yu-Lung, Nonoyama, Shigeaki, Modell, Fred, Modell, Vicki, Barbouche, Mohamed-Ridha, McKinlay, Mark A., Aghamohammadi, Asghar, Abolhassani, Hassan, Kutukculer, Necil, Wassilak, Steve G., Pallansch, Mark A., Kluglein, Samantha, Quinn, Jessica, Sutter, Roland W., Wang, Xiaochuan, Sanal, Ozden, Latysheva, Tatiana, Ikinciogullari, Aydan, Bernatowska, Ewa, Tuzankina, Irina A., Costa-Carvalho, Beatriz T., Luis Franco, Jose, Somech, Raz, Karakoc-Aydiner, Elif, Singh, Surjit, Bezrodnik, Liliana, Espinosa-Rosales, Francisco J., Shcherbina, Anna, Lau, Yu-Lung, Nonoyama, Shigeaki, Modell, Fred, Modell, Vicki, Barbouche, Mohamed-Ridha, and McKinlay, Mark A.

Published
2017

50. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

Author

Stoma/continentiezorg, Immuno/reuma patientenzorg, Infection & Immunity, Child Health, de la Morena, M Teresa, Leonard, David, Torgerson, Troy R, Cabral-Marques, Otavio, Slatter, Mary, Aghamohammadi, Asghar, Chandra, Sharat, Murguia-Favela, Luis, Bonilla, Francisco A, Kanariou, Maria, Damrongwatanasuk, Rongras, Kuo, Caroline Y, Dvorak, Christopher C., Meyts, Isabelle, Chen, Karin, Kobrynski, Lisa, Kapoor, Neena, Richter, Darko, DiGiovanni, Daniela, Dhalla, Fatima, Farmaki, Evangelia, Speckmann, Carsten, Español, Teresa, Shcherbina, Anna, Hanson, Imelda Celine, Litzman, Jiri, Routes, John M, Wong, Melanie, Fuleihan, Ramsay, Seneviratne, Suranjith L., Small, Trudy N, Janda, Ales, Bezrodnik, Liliana, Seger, Reinhard, Raccio, Andrea Gomez, Edgar, J David M, Chou, Janet, Abbott, Jordan K, van Montfrans, Joris, González-Granado, Luis Ignacio, Bunin, Nancy, Kutukculer, Necil, Gray, Paul, Seminario, Gisela, Pasic, Srdjan, Aquino, Victor, Wysocki, Christian, Abolhassani, Hassan, Dorsey, Morna, Cunningham-Rundles, Charlotte, Knutsen, Alan P, Sleasman, John, Costa Carvalho, Beatriz Tavares, Condino-Neto, Antonio, Grunebaum, Eyal, Chapel, Helen, Ochs, Hans D., Filipovich, Alexandra, Cowan, Mort, Gennery, Andrew, Cant, Andrew, Notarangelo, Luigi D, Roifman, Chaim M, Stoma/continentiezorg, Immuno/reuma patientenzorg, Infection & Immunity, Child Health, de la Morena, M Teresa, Leonard, David, Torgerson, Troy R, Cabral-Marques, Otavio, Slatter, Mary, Aghamohammadi, Asghar, Chandra, Sharat, Murguia-Favela, Luis, Bonilla, Francisco A, Kanariou, Maria, Damrongwatanasuk, Rongras, Kuo, Caroline Y, Dvorak, Christopher C., Meyts, Isabelle, Chen, Karin, Kobrynski, Lisa, Kapoor, Neena, Richter, Darko, DiGiovanni, Daniela, Dhalla, Fatima, Farmaki, Evangelia, Speckmann, Carsten, Español, Teresa, Shcherbina, Anna, Hanson, Imelda Celine, Litzman, Jiri, Routes, John M, Wong, Melanie, Fuleihan, Ramsay, Seneviratne, Suranjith L., Small, Trudy N, Janda, Ales, Bezrodnik, Liliana, Seger, Reinhard, Raccio, Andrea Gomez, Edgar, J David M, Chou, Janet, Abbott, Jordan K, van Montfrans, Joris, González-Granado, Luis Ignacio, Bunin, Nancy, Kutukculer, Necil, Gray, Paul, Seminario, Gisela, Pasic, Srdjan, Aquino, Victor, Wysocki, Christian, Abolhassani, Hassan, Dorsey, Morna, Cunningham-Rundles, Charlotte, Knutsen, Alan P, Sleasman, John, Costa Carvalho, Beatriz Tavares, Condino-Neto, Antonio, Grunebaum, Eyal, Chapel, Helen, Ochs, Hans D., Filipovich, Alexandra, Cowan, Mort, Gennery, Andrew, Cant, Andrew, Notarangelo, Luigi D, and Roifman, Chaim M

Published
2017

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