GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2020 |
| Outros Autores: | , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/46324 |
Resumo: | Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brasil. |
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Almeida, Daniela Palheiro Mendes deAndrade, Francianne G.Santos-Bueno, Filipe V. dosFreitas, Dayvison F. SaraivaZancopé-Oliveira, Rosely M.Pombo-de-Oliveira, Maria S.2021-03-10T19:03:15Z2021-03-10T19:03:15Z2020ALMEIDA, Daniela Palheiro Mendes de et al. GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeciency in Brazil. Research Square, v. 1, p. 1-9, 2020.2693-5015https://www.arca.fiocruz.br/handle/icict/4632410.21203/rs.3.rs-19675/v1engGATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Rio de Janeiro, RJ, Brasil.Background Non-tuberculous mycobacteria (NTM) and invasive fungal infections (IFI) may be considered opportunistic infections in immunocompromised patients with GATA2 haplodeciency. Sporadic or familial GATA2 mutations are associated with infection susceptibility, autoimmunity, and myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This work aimed to investigate GATA2 status in patients with NTM and/or IFI with unknown causes for immunodeciency . Methods A series of incident patients with NTM and/or IFI from the Division of Hematology of the Institute of Infectious DiseasesFIOCRUZ at Rio de Janeiro, Brazil, from 2015 to 2018 were subject to GATA2 genotyping. Patients with HIV positivity or other immunodeciencies were excluded. Results. Twenty-two patients and 9 of their relatives were enrolled. Seventeen patients had IFI, 4 NTM, and one patient present both infections. In 6 patients, the occurrence of malignant disease was found along with this infection, with MDS/AML (n =3) being the most frequent. The pathogenic T354M mutation was found in 4.5% (1/22) of patients and asymptomatic offspring (2/9). We also found the GATA2 polymorphisms rs2335052 and rs369850507 in 18.2% and 4.5%, respectively, and the rs11708606 intronic polymorphisms in 27.3% of cases. Conclusions GATA2 mutations are substantial ndings in patients with NTM and/or IFI without known immunosuppression. As it can indicate a primary immunodeciency and lead to cancers - particularly MDS and AML- the presentation with NTM or IFI should trigger GATA2 mutation testing. The carriers should receive genetic counseling, subsequent infection prevention measures , and surveillance for hematologic malignancies.GATA2 gene mutationMonoMAC syndromeMyelodysplastic syndromePrimary immunodeciencyNon-tuberculous mycobacterial infectionInvasive fungalinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-83099https://www.arca.fiocruz.br/bitstream/icict/46324/1/license.txt586c046dcfeef936e32f0323bb9a47c0MD51ORIGINALGata2_Daniela_Almeida_etal_INI_2020.pdfGata2_Daniela_Almeida_etal_INI_2020.pdfapplication/pdf423469https://www.arca.fiocruz.br/bitstream/icict/46324/2/Gata2_Daniela_Almeida_etal_INI_2020.pdfc96b12eaa34992f6c0212abef8447f03MD52TEXTGata2_Daniela_Almeida_etal_INI_2020.pdf.txtGata2_Daniela_Almeida_etal_INI_2020.pdf.txtExtracted 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| dc.title.pt_BR.fl_str_mv |
GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil |
| title |
GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil |
| spellingShingle |
GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil Almeida, Daniela Palheiro Mendes de GATA2 gene mutation MonoMAC syndrome Myelodysplastic syndrome Primary immunodeciency Non-tuberculous mycobacterial infection Invasive fungal |
| title_short |
GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil |
| title_full |
GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil |
| title_fullStr |
GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil |
| title_full_unstemmed |
GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil |
| title_sort |
GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeficiency in Brazil |
| author |
Almeida, Daniela Palheiro Mendes de |
| author_facet |
Almeida, Daniela Palheiro Mendes de Andrade, Francianne G. Santos-Bueno, Filipe V. dos Freitas, Dayvison F. Saraiva Zancopé-Oliveira, Rosely M. Pombo-de-Oliveira, Maria S. |
| author_role |
author |
| author2 |
Andrade, Francianne G. Santos-Bueno, Filipe V. dos Freitas, Dayvison F. Saraiva Zancopé-Oliveira, Rosely M. Pombo-de-Oliveira, Maria S. |
| author2_role |
author author author author author |
| dc.contributor.author.fl_str_mv |
Almeida, Daniela Palheiro Mendes de Andrade, Francianne G. Santos-Bueno, Filipe V. dos Freitas, Dayvison F. Saraiva Zancopé-Oliveira, Rosely M. Pombo-de-Oliveira, Maria S. |
| dc.subject.en.pt_BR.fl_str_mv |
GATA2 gene mutation MonoMAC syndrome Myelodysplastic syndrome Primary immunodeciency Non-tuberculous mycobacterial infection Invasive fungal |
| topic |
GATA2 gene mutation MonoMAC syndrome Myelodysplastic syndrome Primary immunodeciency Non-tuberculous mycobacterial infection Invasive fungal |
| description |
Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brasil. |
| publishDate |
2020 |
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2020 |
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2021-03-10T19:03:15Z |
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2021-03-10T19:03:15Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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ALMEIDA, Daniela Palheiro Mendes de et al. GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeciency in Brazil. Research Square, v. 1, p. 1-9, 2020. |
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https://www.arca.fiocruz.br/handle/icict/46324 |
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2693-5015 |
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10.21203/rs.3.rs-19675/v1 |
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ALMEIDA, Daniela Palheiro Mendes de et al. GATA2 mutations in patients with non-tuberculous mycobacterial or fungal infections with unknown immunodeciency in Brazil. Research Square, v. 1, p. 1-9, 2020. 2693-5015 10.21203/rs.3.rs-19675/v1 |
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