A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)
Adriana Melo, Luciana Martins de Carvalho, Virginia Paes Leme Ferriani, André Cavalcanti, Simone Appenzeller, Valéria Rossato Oliveira, Herberto Chong Neto, Nelson Augusto Rosário, Fabiano de Oliveira Poswar, Matheus Xavier Guimaraes, Cristina Maria Kokron, Rayana Elias Maia, Guilherme Diogo Silva,...
Adriana Melo, Luciana Martins de Carvalho, Virginia Paes Leme Ferriani, André Cavalcanti, Simone Appenzeller, Valéria Rossato Oliveira, Herberto Chong Neto, Nelson Augusto Rosário, Fabiano de Oliveira Poswar, Matheus Xavier Guimaraes, Cristina Maria Kokron, Rayana Elias Maia, Guilherme Diogo Silva, Gabriel Keller, Mauricio Domingues Ferreira, Dewton Moraes Vasconcelos, Myrthes Anna Maragna Toledo-Barros, Samar Freschi Barros, Nilton Salles Rosa Neto, Marta Helena Krieger, Jorge Kalil, Leonardo Oliveira Mendonça
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Agradecimentos: The authors would like to thanks the patients and their families for their participation in this study. This paper was supported by the Center for Rare and lmmunological Disorders - Hospital 9 de Julho/DASA
Abstract: The deficiency of ADA2 (DADA2) is a rare autoinflammatory disease provoked by mutations in the ADA2 gene inherited in a recessive fashion. Up to this moment there is no consensus for the treatment of DADA2 and anti-TNF is the therapy of choice for chronic management whereas bone marrow...
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Abstract: The deficiency of ADA2 (DADA2) is a rare autoinflammatory disease provoked by mutations in the ADA2 gene inherited in a recessive fashion. Up to this moment there is no consensus for the treatment of DADA2 and anti-TNF is the therapy of choice for chronic management whereas bone marrow transplantation is considered for refractory or severe phenotypes. Data from Brazil is scarce and this multicentric study reports 18 patients with DADA2 from Brazil. Patients and methods: This is a multicentric study proposed by the Center for Rare and Immunological Disorders of the Hospital 9 de Julho - DASA, São Paulo - Brazil. Patients of any age with a confirmed diagnosis of DADA2 were eligible for this project and data on clinical, laboratory, genetics and treatment were collected. Results: Eighteen patients from 10 different centers are reported here. All patients had disease onset at the pediatric age (median of 5 years) and most of them from the state of São Paulo. Vasculopathy with recurrent stroke was the most common phenotype but atypical phenotypes compatible with ALPS-like and Common Variable Immunodeficiency (CVID) was also found. All patients carried pathogenic mutations in the ADA2 gene. Acute management of vasculitis was not satisfactory with steroids in many patients and all those who used anti-TNF had favorable responses. Conclusion: The low number of patients diagnosed with DADA2 in Brazil reinforces the need for disease awareness for this condition. Moreover, the absence of guidelines for diagnosis and management is also necessary to guide diagnosis and treatment of this disorder
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A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)
A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)
Adriana Melo, Luciana Martins de Carvalho, Virginia Paes Leme Ferriani, André Cavalcanti, Simone Appenzeller, Valéria Rossato Oliveira, Herberto Chong Neto, Nelson Augusto Rosário, Fabiano de Oliveira Poswar, Matheus Xavier Guimaraes, Cristina Maria Kokron, Rayana Elias Maia, Guilherme Diogo Silva,...
Adriana Melo, Luciana Martins de Carvalho, Virginia Paes Leme Ferriani, André Cavalcanti, Simone Appenzeller, Valéria Rossato Oliveira, Herberto Chong Neto, Nelson Augusto Rosário, Fabiano de Oliveira Poswar, Matheus Xavier Guimaraes, Cristina Maria Kokron, Rayana Elias Maia, Guilherme Diogo Silva, Gabriel Keller, Mauricio Domingues Ferreira, Dewton Moraes Vasconcelos, Myrthes Anna Maragna Toledo-Barros, Samar Freschi Barros, Nilton Salles Rosa Neto, Marta Helena Krieger, Jorge Kalil, Leonardo Oliveira Mendonça
A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)
Adriana Melo, Luciana Martins de Carvalho, Virginia Paes Leme Ferriani, André Cavalcanti, Simone Appenzeller, Valéria Rossato Oliveira, Herberto Chong Neto, Nelson Augusto Rosário, Fabiano de Oliveira Poswar, Matheus Xavier Guimaraes, Cristina Maria Kokron, Rayana Elias Maia, Guilherme Diogo Silva,...
Adriana Melo, Luciana Martins de Carvalho, Virginia Paes Leme Ferriani, André Cavalcanti, Simone Appenzeller, Valéria Rossato Oliveira, Herberto Chong Neto, Nelson Augusto Rosário, Fabiano de Oliveira Poswar, Matheus Xavier Guimaraes, Cristina Maria Kokron, Rayana Elias Maia, Guilherme Diogo Silva, Gabriel Keller, Mauricio Domingues Ferreira, Dewton Moraes Vasconcelos, Myrthes Anna Maragna Toledo-Barros, Samar Freschi Barros, Nilton Salles Rosa Neto, Marta Helena Krieger, Jorge Kalil, Leonardo Oliveira Mendonça
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Research square Apr. 2023 |