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4. A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)

Author

Melo, Adriana, de Carvalho, Luciana Martins, Ferriani, Virginia Paes Leme, Cavalcanti, André, Appenzeller, Simone, Oliveira, Valéria Rossato, Neto, Herberto Chong, Rosário, Nelson Augusto, de Oliveira Poswar, Fabiano, Guimaraes, Matheus Xavier, Kokron, Cristina Maria, Maia, Rayana Elias, Silva, Guilherme Diogo, Keller, Gabriel, Ferreira, Mauricio Domingues, Vasconcelos, Dewton Moraes, Toledo-Barros, Myrthes Anna Maragna, Barros, Samar Freschi, Neto, Nilton Salles Rosa, Krieger, Marta Helena, Kalil, Jorge, and Mendonça, Leonardo Oliveira

Published
2023
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5. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Author

Meyts, Isabelle, Bucciol, Giorgia, Quinti, Isabella, Neven, Bénédicte, Fischer, Alain, Seoane, Elena, Lopez-Granados, Eduardo, Gianelli, Carla, Robles-Marhuenda, Angel, Jeandel, Pierre-Yves, Paillard, Catherine, Sankaran, Vijay G, Demirdag, Yesim Yilmaz, Lougaris, Vassilios, Aiuti, Alessandro, Plebani, Alessandro, Milito, Cinzia, Dalm, Virgil ASH, Guevara-Hoyer, Kissy, Sánchez-Ramón, Silvia, Bezrodnik, Liliana, Barzaghi, Federica, Gonzalez-Granado, Luis Ignacio, Hayman, Grant R, Uzel, Gulbu, Mendonça, Leonardo Oliveira, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Soresina, Annarosa, Vermeulen, François, Bosteels, Cedric, Lambrecht, Bart N, Keller, Michael, Mustillo, Peter J, Abraham, Roshini S, Gupta, Sudhir, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Freeman, Alexandra F, Yamazaki-Nakashimada, Marco, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara, Gennery, Andrew R, Jolles, Stephen, Espinosa, Yazmin, Poli, M Cecilia, Fieschi, Claire, Hauck, Fabian, Cunningham-Rundles, Charlotte, Mahlaoui, Nizar, Errors of Immunity, IUIS Committee of Inborn, Warnatz, Klaus, Sullivan, Kathleen E, and Tangye, Stuart G

Subjects
Vaccine Related, Clinical Research, Pneumonia & Influenza, Prevention, Pediatric, Emerging Infectious Diseases, Pneumonia, Infectious Diseases, Lung, Biodefense, Rare Diseases, Good Health and Well Being, Adolescent, Adult, Aged, COVID-19, Child, Child, Preschool, Female, Genetic Diseases, Inborn, Humans, Immunologic Deficiency Syndromes, Infant, Infant, Newborn, Male, Middle Aged, Retrospective Studies, Risk Factors, SARS-CoV-2, Severity of Illness Index, Young Adult, primary immunodeficiencies, inborn errors of immunity, hypogammaglobulinemia, immune dysregulation, IUIS Committee of Inborn Errors of Immunity, Immunology, Allergy
Abstract

BackgroundThere is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense.ObjectiveWe sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2.MethodsAn invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI.ResultsWe gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died.ConclusionsThis study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2.

Published
2021

6. In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation

Author

Mendonça, Leonardo Oliveira, Toledo-Barros, Myrthes Anna Maragna, Leal, Vinicius Nunes Cordeiro, Roa, Mariela Estefany Gislene Vera, Cambuí, Raylane Adrielle Gonçalves, Toledo, Eliana, Barros, Samar Freschi, de Oliveira, Amanda Melato, Rivitti-Machado, Maria Cecília, Francescantonio, Isadora Carvalho Medeiros, Grumach, Anete Sevciovic, de Oliveira Penido, Norma, Castro, Fabio Fernandes Morato, Kalil, Jorge, and Pontillo, Alessandra

Published
2022
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7. Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus

Author

Steiner, Annemarie, Reygaerts, Thomas, Pontillo, Alessandra, Ceccherini, Isabella, Moecking, Jonas, Moghaddas, Fiona, Davidson, Sophia, Caroli, Francesco, Grossi, Alice, Castro, Fabio Fernandes Morato, Kalil, Jorge, Gohr, Florian N., Schmidt, Florian I., Bartok, Eva, Zillinger, Thomas, Hartmann, Gunther, Geyer, Matthias, Gattorno, Marco, Mendonça, Leonardo Oliveira, and Masters, Seth L.

Published
2022
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9. Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country

Author

Szor, Roberta Shcolnik, Fernandes, Fabio, Lino, Angelina Maria Martins, Mendonça, Leonardo Oliveira, Seguro, Fernanda Salles, Feitosa, Valkercyo Araujo, Castelli, Jussara Bianchi, Jorge, Lecticia Barbosa, de Oliveira Alves, Lucas Bassolli, de Menezes Neves, Precil Diego Miranda, de Oliveira Souza, Evandro, Cavalcante, Livia Barreira, Malheiros, Denise, Kalil, Jorge, Martinez, Gracia Aparecida, and Rocha, Vanderson

Published
2022
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10. Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study

Author

Goudouris, Ekaterini Simões, Pinto-Mariz, Fernanda, Mendonça, Leonardo Oliveira, Aranda, Carolina Sanchez, Guimarães, Rafaela Rolla, Kokron, Cristina, Barros, Myrthes Toledo, Anísio, Flávia, Alonso, Maria Luiza Oliva, Marcelino, Fernanda, Valle, Solange Oliveira Rodrigues, Junior, Sergio Dortas, Barreto, Irma Douglas Paes, Ferreira, Janáira Fernandes Severo, Roxo-Junior, Pérsio, do Rego Silva, Almerinda Maria, Campinhos, Fernanda Lugão, Bonfim, Carmem, Loth, Gisele, Fernandes, Juliana Folloni, Garcia, Julia Lopes, Capelo, Albertina, Takano, Olga Akiko, Nadaf, Maria Isabel Valdomir, Toledo, Eliana C., Cunha, Luciana Araújo Oliveira, Di Gesu, Regina Sumiko Watanabe, Schidlowski, Laire, Fillipo, Priscila, Bichuetti-Silva, Daniélli C., Soldateli, Gustavo, Ferraroni, Natasha Rebouças, de Oliveira Dantas, Ellen, Pestana, Simone, Mansour, Eli, Ulaf, Raisa Gusso, Prando, Carolina, Condino-Neto, Antonio, and Grumach, Anete Sevciovic

Published
2021
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15. A Brazilian nationwide multicenter study on Deficiency of Deaminase-2 (DADA2)

Author

Melo, Adriana, primary, de Carvalho, Luciana Martins, additional, Ferriani, Virginia Paes Leme, additional, Cavalcanti, André, additional, Appenzeller, Simone, additional, Oliveira, Valéria Rossato, additional, Neto, Herbert Chong, additional, Rosário, Nelson Augusto, additional, Poswar, Fabiano de Oliveira, additional, Guimaraes, Matheus Xavier, additional, Kokron, Cristina Maria, additional, Maia, Rayane Elias, additional, Silva, Guilherme Diogo, additional, Keller, Gabriel, additional, Ferreira, Mauricio Domingues, additional, Vasconcelos, Dewton Moraes, additional, Toledo-Barros, Myrthes Anna Maragna, additional, Barros, Samar Freschi, additional, Sales, Nilton, additional, Krieger, Marta Helena, additional, Kalil, Jorge, additional, and Mendonça, Leonardo Oliveira, additional

Published
2023
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16. Proposed Constitutional Amendment (PEC) No. 10 of 2022: Manifestation of the Scientifi c Department of Inborn Errors of Immunity of the Brazilian Association of Allergy and Immunology (ASBAI)

Author

Grumach, Anete S., primary, Antunes, Adriana Azoubel, additional, Condino Neto, Antonio, additional, Prando, Carolina Cardoso de Mello, additional, Aranda, Carolina Sanchez, additional, Kokron, Cristina Maria, additional, Goudouris, Ekaterini Simões, additional, Tavares, Fabiola Scancetti, additional, Mariz, Fernanda Pinto, additional, Segundo, Gesmar Rodrigues Silva, additional, Velasco, Helena Fleck, additional, Barreto, Irma Cecilia Douglas Paes, additional, Mendonça, Leonardo Oliveira, additional, Cunha, Luciana Araújo Oliveira, additional, Alonso, Maria Luiza Oliva, additional, Pimentel, Mariana De Gouveia Pereira, additional, Dorna, Mayra de Barros, additional, and Forte, Wilma Carvalho Neves, additional

Published
2023
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17. Proposta de Emenda à Constituição (PEC) nº 10 de 2022: Manifestação do Departamento Científico de Erros Inatos da Imunidade da Associação Brasileira de Alergia e Imunologia (ASBAI)

Author

Grumach, Anete S., primary, Antunes, Adriana Azoubel, additional, Condino Neto, Antonio, additional, Prando, Carolina Cardoso De Mello, additional, Aranda, Carolina Sanchez, additional, Kokron, Cristina Maria, additional, Goudouris, Ekaterini Simões, additional, Tavares, Fabiola Scancetti, additional, Mariz, Fernanda Pinto, additional, Segundo, Gesmar Rodrigues Silva, additional, Velasco, Helena Fleck, additional, Barreto, Irma Cecilia Douglas Paes, additional, Mendonça, Leonardo Oliveira, additional, Cunha, Luciana Araújo Oliveira, additional, Alonso, Maria Luiza Oliva, additional, Pimentel, Mariana De Gouveia Pereira, additional, Dorna, Mayra de Barros, additional, and Forte, Wilma Carvalho Neves, additional

Published
2023
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18. Additional file 1 of A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)

Author

Melo, Adriana, de Carvalho, Luciana Martins, Ferriani, Virginia Paes Leme, Cavalcanti, André, Appenzeller, Simone, Oliveira, Valéria Rossato, Neto, Herberto Chong, Rosário, Nelson Augusto, de Oliveira Poswar, Fabiano, Guimaraes, Matheus Xavier, Kokron, Cristina Maria, Maia, Rayana Elias, Silva, Guilherme Diogo, Keller, Gabriel, Ferreira, Mauricio Domingues, Vasconcelos, Dewton Moraes, Toledo-Barros, Myrthes Anna Maragna, Barros, Samar Freschi, Neto, Nilton Salles Rosa, Krieger, Marta Helena, Kalil, Jorge, and Mendonça, Leonardo Oliveira

Abstract

Supplementary Material 1

Published
2023
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19. Challenges and insights in immunization in patients with demyelinating diseases: a bench-to-bedside and evidence-based review

Author

Silva, Guilherme Diogo, Oliveira, Vítor Falcão de, and Mendonça, Leonardo Oliveira

Subjects
Vaccines, Vacinas, Multiple Sclerosis, Imunização, Neuromielite Óptica, Esclerose Múltipla, Neuromyelitis Optica, Immunization, Doenças Desmielinizantes, Demyelinating Diseases
Abstract

Background: Infections are among the main causes of death in patients with demyelinating diseases of the central nervous system (CNSDD). Vaccines are effective methods in reducing hospitalization and death from infectious diseases, but they are challenging in patients with CNSDD because of autoimmunity and immunosuppression. Objectives: To summarize the pathophysiological rationale and main evidence for vaccine recommendations in patients with CNSDD. Methods: Specialists with different backgrounds on the subject: a neurologist specialized in demyelinating diseases, an infectious diseases specialist and an immunologist, presented a critical narrative review of vaccination literature in patients with CNSDD, highlighting which vaccines should or should not be administered and the best time for it. Results: Patients with DDSNC are at increased risk of vaccine-preventable viral and bacterial infections. Vaccines can prevent herpes zoster, hepatitis B reactivation, HPV-associated warts and tumors, viral and bacterial pneumonia, and meningitis. Live attenuated virus vaccines should not be used when the patient is on immunosuppression. Vaccines should be avoided during relapses. The greatest vaccine efficacy is given before treatment or at the end of medication. Conclusion: Patients with DDSNC need differentiated immunization in relation to additional vaccines, contraindicated vaccines and timing of vaccination. RESUMO Antecedentes: Infecções estão entre as principais causas de morte de pacientes com doenças desmielinizantes do sistema nervoso central (DDSNC). Vacinas são métodos eficazes para reduzir internação e morte por doenças infecciosas, porém são desafiadoras em pacientes com DDSNC tanto pela autoimunidade quanto pela imunossupressão. Objetivos: Resumir o racional fisiopatológico e as principais evidências para as recomendações de vacinas em pacientes com DDSNC. Métodos: Especialistas com diferentes formações no tema: um neurologista especialista em doenças desmielinizantes, um infectologista e um imunologista, apresentam uma revisão crítica narrativa da Literatura de vacinação em pacientes com DDSNC, com destaque a quais vacinas devem ou não ser administradas e o melhor momento para isso. Resultados: Pacientes com DDSNC têm risco aumentado para infecções imunopreveníveis virais e bacterianas. Vacinas podem prevenir herpes zooster, reativação de hepatite B, verrugas e tumores associados ao HPV, pneumonias virais e bacterianas, além de meningites. Vacinas de vírus vivos atenuados não devem ser usadas quando o paciente está em uso de imunossupressão. Vacinas devem ser evitadas durante surtos. A maior eficácia vacinal é dada antes do tratamento ou ao final de doses de medicações. Conclusão: Os pacientes com DDSNC necessitam de imunização diferenciada em relação a vacinas adicionais, vacinas contraindicadas e melhor momento de vacinação.

Published
2022

20. Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country

Author

Szor, Roberta Shcolnik, primary, Fernandes, Fabio, additional, Lino, Angelina Maria Martins, additional, Mendonça, Leonardo Oliveira, additional, Seguro, Fernanda Salles, additional, Feitosa, Valkercyo Araujo, additional, Castelli, Jussara Bianchi, additional, Jorge, Lecticia Barbosa, additional, Alves, Lucas Bassolli de Oliveira, additional, Neves, Precil Diego Miranda de Menezes, additional, Souza, Evandro de Oliveira, additional, Cavalcante, Livia Barreira, additional, Malheiros, Denise, additional, Kalil, Jorge, additional, Martinez, Gracia Aparecida, additional, and Rocha, Vanderson, additional

Published
2022
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22. Clinical and Genetic Findings of the First Report of PAPA Syndrome in Brazil

Author

Fernandes, Sérgio Júlio, primary, Valdomir Nadaf, Maria Isabel, additional, Monteiro, Nauro Hudson, additional, Nadaf, Izabel Nazira, additional, Lélis, Cleiton Ribeiro, additional, Takano, Bianca Yumi, additional, Gabriella de Camargo Monteiro, Bárbarah, additional, Gabriella de Camargo Monteiro, Nyvea, additional, Takano, Olga Akiko, additional, and Mendonça, Leonardo Oliveira, additional

Published
2021
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24. Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus

Author

Steiner, Annemarie, primary, Reygaerts, Thomas, additional, Pontillo, Alessandra, additional, Ceccherini, Isabella, additional, Moecking, Jonas, additional, Moghaddas, Fiona, additional, Davidson, Sophia, additional, Caroli, Francesco, additional, Grossi, Alice, additional, Castro, Fabio Fernandes Morato, additional, Kalil, Jorge, additional, Gohr, Florian N., additional, Schmidt, Florian I., additional, Bartok, Eva, additional, Zillinger, Thomas, additional, Hartmann, Gunther, additional, Geyer, Matthias, additional, Gattorno, Marco, additional, Mendonça, Leonardo Oliveira, additional, and Masters, Seth L., additional

Published
2021
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26. Additional file 1 of A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

Author

Mendonça, Leonardo Oliveira, Grossi, Alice, Caroli, Francesco, Robson Aguiar De Oliveira, Kalil, Jorge, Castro, Fabio Fernandes Morato, Pontillo, Alessandra, Ceccherini, Isabella, Myrthes Anna Maragna Toledo Barros, and Gattorno, Marco

Abstract

Additional file 1. Genetic segregation in the mother and the father of mutations found. Forward and Reverse primmers used in exons 2 and 3 of the IL1RN gene.

Published
2020
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27. Outcome of SARS-CoV-2 Infection in 121 Patients With Inborn Errors of Immunity: A Cross-sectional Study

Author

goudouris, ekaterini, primary, Pinto-Mariz, Fernanda, additional, Mendonça, Leonardo Oliveira, additional, Aranda, Carolina Sanchez, additional, Guimarães, Rafaela Rolla, additional, Kokron, Cristina, additional, Barros, Myrthes Toledo, additional, Anísio, Flávia, additional, Alonso, Maria Luiza Oliva, additional, Marcelino, Fernanda, additional, Valle, Solange Oliveira Rodrigues, additional, Junior, Sergio Dortas, additional, Barreto, Irma Douglas Paes, additional, Fernandes, Janáira, additional, Roxo, Pérsio, additional, Silva, Almerinda, additional, Campinho, Fernanda Lugão, additional, Bonfim, Carmem, additional, Loth, Gisele, additional, Fernandes, Juliana Folloni, additional, Garcia, Julia Lopes, additional, Capelo, Albertina, additional, Takano, Olga Akiko, additional, Nada, Maria Isabel Valdomir, additional, Toledo, Eliana, additional, Cunha, Luciana Araújo Oliveira, additional, Gesu, Regina Sumiko Watanabe Di, additional, Schidlowsk, Laire, additional, Fillipo, Priscila, additional, Bichuetti, Danielli, additional, Soldateli, Gustavo, additional, Ferraroni, Natasha Rebouças, additional, Dantas, Ellen, additional, Pestana, Simone, additional, Mansour, Eli, additional, Ulaf, Raisa Gusso, additional, Prando, Carolina, additional, Condino-Neto, Antonio, additional, and Grumach, Anete Sevciovic, additional

Published
2021
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32. challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.

Author

Mendonça, Leonardo Oliveira, Casabona, Federica, Bovis, Francesca, Caorsi, Roberta, Fioredda, Francesca, Palmisani, Elena, Grossi, Alice, Guardo, Daniela, Bustaffa, Marta, Volpi, Stefano, Ceccherini, Isabella, Ravelli, Angelo, Dufour, Carlo, Miano, Maurizio, and Gattorno, Marco

Subjects
*GENETIC disorder diagnosis, *AUTOIMMUNE disease diagnosis, *FLOW cytometry, *STATISTICS, *FEVER, *STOMATITIS, *INFLAMMATION, *RHEUMATOLOGY, *MULTIVARIATE analysis, *PEDIATRICS, *RETROSPECTIVE studies, *LYMPHADENITIS, *JOINT pain, *SPLEEN diseases, *SEX distribution, *MEDICAL referrals, *DESCRIPTIVE statistics, *LYMPHOPROLIFERATIVE disorders, *T cells, *LOGISTIC regression analysis, *EARLY diagnosis, *AUTOIMMUNE lymphoproliferative syndrome, *LYMPHOCYTE subsets, *PHARYNGITIS, *CHILDREN
Abstract

Objectives To test the usefulness of an extended panel of lymphocyte subsets in combination with Oliveira's diagnostic criteria for the identification of autoimmune lymphoproliferative syndrome (ALPS) in children referred to a paediatric rheumatology centre. Methods Patients referred from 2015 to 2018 to our rheumatology unit for an autoimmune or autoinflammatory condition were retrospectively analysed. Oliveira's required criteria [chronic lymphoproliferation and elevated double-negative T (DNT)] were applied as first screening. Flow cytometry study included double-negative CD4–CD8–TCRαβ+ T lymphocytes (DNT), CD25+CD3+, HLA–DR+CD3+ T cells, B220+ T cells and CD27+ B cells. Data were analysed with a univariate logistic regression analysis, followed by a multivariate analysis. Sensitivity and specificity of the Oliveira's required criteria were calculated. Results A total of 264 patients were included in the study and classified as: (i) autoimmune diseases (n  = 26); (ii) juvenile idiopathic arthritis (JIA) (35); (iii) monogenic systemic autoinflammatory disease (27); (iv) periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (100); (v) systemic undefined recurrent fever (45); (vi) undetermined-systemic autoinflammatory disease (14); or (vii) ALPS (17). Oliveira's required criteria displayed a sensitivity of 100% and specificity of 79%. When compared with other diseases the TCRαβ+B220+ lymphocytes were significantly increased in ALPS patients. The multivariate analysis revealed five clinical/laboratory parameters positively associated to ALPS: splenomegaly, female gender, arthralgia, elevated DNT and TCRαβ+B220+ lymphocytes. Conclusions Oliveira's required criteria are useful for the early suspicion of ALPS. TCRαβ+B220+ lymphocytes should be added in the diagnostic work-up of patients referred to the paediatric rheumatology unit for a suspected autoimmune or autoinflammatory condition, providing a relevant support in the early diagnosis of ALPS. [ABSTRACT FROM AUTHOR]

Published
2022
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36. Uma nova classe de doenças: doenças autoinflamatórias

Author

Mendonça, Leonardo Oliveira, primary, Azzolini, Ricardo Krieger, additional, Assis, João Paulo de, additional, Franco, André, additional, Kalil, Jorge, additional, Castro, Fabio Morato, additional, Pontillo, Alessandra, additional, and Barros, Myrthes Toledo de, additional

Published
2017
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39. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Author

Liliana Bezrodnik, Vijay G. Sankaran, Silvia Sánchez-Ramón, Peter Mustillo, Michael A. Keller, Isabelle Meyts, Giorgia Bucciol, Yesim Yilmaz Demirdag, Luis Ignacio Gonzalez-Granado, Andrew R. Gennery, Alexandra F. Freeman, Raffaele Badolato, Alain Fischer, Safa Baris, Federica Barzaghi, Sudhir Gupta, Carlo Agostini, Gulbu Uzel, Kissy Guevara-Hoyer, Isabella Quinti, M. Cecilia Poli, Charlotte Cunningham-Rundles, Stephen Jolles, Elif Karakoc-Aydiner, Alessandro Aiuti, Cinzia Milito, Fabian Hauck, Angel Robles-Marhuenda, Stuart G. Tangye, Marco Yamazaki-Nakashimada, Elena Seoane, Sara Elva Espinosa-Padilla, Pierre Yves Jeandel, Kathleen E. Sullivan, Klaus Warnatz, Claire Fieschi, Cedric Bosteels, Alessandro Plebani, Leonardo Oliveira Mendonça, Carla Gianelli, François Vermeulen, Bart N. Lambrecht, Annarosa Soresina, Virgil A. S. H. Dalm, Selma Scheffler-Mendoza, Catherine Paillard, Eduardo López-Granados, Vassilios Lougaris, Ahmet Ozen, Grant Hayman, Nizar Mahlaoui, Yazmin Espinosa, Bénédicte Neven, Giuseppe Spadaro, Roshini S. Abraham, Meyts, Isabelle, Bucciol, Giorgia, Quinti, Isabella, Neven, Bénédicte, Fischer, Alain, Seoane, Elena, Lopez-Granados, Eduardo, Gianelli, Carla, Robles-Marhuenda, Angel, Jeandel, Pierre-Yve, Paillard, Catherine, Sankaran, Vijay G, Demirdag, Yesim Yilmaz, Lougaris, Vassilio, Aiuti, Alessandro, Plebani, Alessandro, Milito, Cinzia, Dalm, Virgil Ash, Guevara-Hoyer, Kissy, Sánchez-Ramón, Silvia, Bezrodnik, Liliana, Barzaghi, Federica, Gonzalez-Granado, Luis Ignacio, Hayman, Grant R, Uzel, Gulbu, Mendonça, Leonardo Oliveira, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Soresina, Annarosa, Vermeulen, Françoi, Bosteels, Cedric, Lambrecht, Bart N, Keller, Michael, Mustillo, Peter J, Abraham, Roshini S, Gupta, Sudhir, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Freeman, Alexandra F, Yamazaki-Nakashimada, Marco, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara, Gennery, Andrew R, Jolles, Stephen, Espinosa, Yazmin, Poli, M Cecilia, Fieschi, Claire, Hauck, Fabian, Cunningham-Rundles, Charlotte, Mahlaoui, Nizar, Warnatz, Klau, Sullivan, Kathleen E, Tangye, Stuart G, Meyts, I., Bucciol, G., Quinti, I., Neven, B., Fischer, A., Seoane, E., Lopez-Granados, E., Gianelli, C., Robles-Marhuenda, A., Jeandel, P. -Y., Paillard, C., Sankaran, V. G., Demirdag, Y. Y., Lougaris, V., Aiuti, A., Plebani, A., Milito, C., Dalm, V. A., Guevara-Hoyer, K., Sanchez-Ramon, S., Bezrodnik, L., Barzaghi, F., Gonzalez-Granado, L. I., Hayman, G. R., Uzel, G., Mendonca, L. O., Agostini, C., Spadaro, G., Badolato, R., Soresina, A., Vermeulen, F., Bosteels, C., Lambrecht, B. N., Keller, M., Mustillo, P. J., Abraham, R. S., Gupta, S., Ozen, A., Karakoc-Aydiner, E., Baris, S., Freeman, A. F., Yamazaki-Nakashimada, M., Scheffler-Mendoza, S., Espinosa-Padilla, S., Gennery, A. R., Jolles, S., Espinosa, Y., Poli, M. C., Fieschi, C., Hauck, F., Cunningham-Rundles, C., Mahlaoui, N., Warnatz, K., Sullivan, K. E., Tangye, S. G., Internal Medicine, Neven, Benedicte, Lopez-Grandos, Eduardo, Jeandel, Pierre-Yves, Sankaran, Vijay G., Lougaris, Vassilios, Dalm, Virgil A. S. H., Sanchez-Ramon, Silvia, Ignacio Gonzalez-Granado, Luis, Hayman, Grant R., Mendonca, Leonardo Oliveira, Vermeulen, Francois, Lambrecht, Bart N., Mustillo, Peter J., Abraham, Roshini S., Freeman, Alexandra F., Gennery, Andrew R., Poli, M. Cecilia, Warnatz, Klaus, Sullivan, Kathleen E., and Tangye, Stuart G.

Subjects
0301 basic medicine, Male, inborn errors of immunity, X-CGD, X-linked chronic granulomatous disease, CGD, Chronic granulomatous disease, X-SCID, X-linked severe combined immunodeficiency, medicine.disease_cause, Severity of Illness Index, law.invention, HSCT, Hematopoietic stem cell transplantation, 0302 clinical medicine, law, Risk Factors, PID, Primary immunodeficiency, AIHA, Autoimmune hemolytic anemia, Medicine and Health Sciences, Immunology and Allergy, Child, Immunodeficiency, education.field_of_study, COVID-19, Coronavirus disease 2019, Middle Aged, Intensive care unit, ICU, Intensive care unit, Child, Preschool, ALPS, Autoimmune lymphoproliferative syndrome, Female, CVID, Common variable immune deficiency, primary immunodeficiencies, Adult, medicine.medical_specialty, IEI, Inborn errors of immunity, Adolescent, hypogammaglobulinemia, Population, Immunology, P, Patient, 03 medical and health sciences, Young Adult, immune dysregulation, Internal medicine, Intensive care, Severity of illness, medicine, Humans, education, Aged, Retrospective Studies, AR, Autosomal-recessive, SARS-CoV-2, Severe acute respiratory syndrome coronavirus 2, business.industry, SARS-CoV-2, AGS, Aicardi-Goutieres syndrome, Genetic Diseases, Inborn, Immunologic Deficiency Syndromes, Infant, Newborn, Infant, COVID-19, Retrospective cohort study, Immune dysregulation, medicine.disease, HLH, Hemophagocytic lymphohistiocytosis, 030104 developmental biology, Primary immunodeficiency, CID, Combined immunodeficiency, business, 030215 immunology
Abstract

BACKGROUND: There is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense. OBJECTIVE: We sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2. METHODS: An invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI. RESULTS: We gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died. CONCLUSIONS: This study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2. ispartof: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY vol:147 issue:2 pages:520-531 ispartof: location:United States status: published

Published
2021

40. Unexplained fever with consumptive syndrome in the elderly: two cases of VEXAS syndrome with inflammasome dysregulation.

Author

Mendonça LO, Leal VNC, Roa MEGV, Barros SF, Kalil J, and Pontillo A

Subjects
Humans, Female, Male, Caspase 1 genetics, Aged, Adaptor Proteins, Signal Transducing genetics, Apoptosis Regulatory Proteins genetics, Ubiquitin-Activating Enzymes genetics, Fever immunology, Mutation, Brazil, Neoplasm Proteins, Inflammasomes metabolism, Inflammasomes immunology, Inflammasomes genetics, NLR Family, Pyrin Domain-Containing 3 Protein genetics, NLR Family, Pyrin Domain-Containing 3 Protein metabolism, Interleukin-18 blood, Interleukin-18 genetics, CARD Signaling Adaptor Proteins genetics, Leukocytes, Mononuclear immunology, Leukocytes, Mononuclear metabolism, NLR Proteins genetics, Neutrophils immunology
Abstract

The aim of this study is to investigate the inflammasome dysregulation in peripheral blood leukocytes of VEXAS patients. The constitutive and in vitro triggered activation of inflammasome in PBMC and neutrophils was analyzed in two Brazilian patients with typical UBA1 mutations, and compared with healthy donors. Our findings highlight the constitutive activation of caspase-1 in VEXAS leukocytes, accompanied by increased plasma levels of IL-18. Furthermore, upon stimulation of isolated peripheral blood mononuclear cells (PBMC) and neutrophils, we observed not only the exhaustion of NLRP3 and NLRP1/CARD8 pathways in VEXAS PBMC but also a significant increase in NLRP3-mediated NETs release in VEXAS neutrophils. These findings support previous studies on the contribution of the inflammasome to VEXAS pathogenesis, identifying at least two profoundly affected pathways (NLRP3 and NLRP1/CARD8) in VEXAS peripheral blood., (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Immunology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Published
2024
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