GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report

Detalhes bibliográficos
Autor(a) principal: Mendes-de-Almeida, Daniela Palheiro
Data de Publicação: 2019
Outros Autores: Andrade, Francianne Gomes, Borges, Gustavo, Santos-Bueno, Filipe V. dos, Vieira, Iracema F., Rocha, Luana Kelly M. da S. da, Mendes-da-Cruz, Daniella A., Zancopé-Oliveira, Rosely M., Calado, Rodrigo T., Pombo-de-Oliveira, Maria S.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/33351
Resumo: Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Divisão de Hematologia. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Research Center. Hematology-Oncology Program. Rio de Janeiro, RJ, Brazil.
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spelling Mendes-de-Almeida, Daniela PalheiroAndrade, Francianne GomesBorges, GustavoSantos-Bueno, Filipe V. dosVieira, Iracema F.Rocha, Luana Kelly M. da S. daMendes-da-Cruz, Daniella A.Zancopé-Oliveira, Rosely M.Calado, Rodrigo T.Pombo-de-Oliveira, Maria S.2019-06-04T12:26:06Z2019-06-04T12:26:06Z2019MENDES-DE-ALMEIDA, Daniela Palheiro et al. GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report. BMC Medical Genetics, v. 20, n.1, p. 1-6, 2019.1471-2350https://www.arca.fiocruz.br/handle/icict/3335110.1186/s12881-019-0799-61471-2350engBMCGATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-reportinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Divisão de Hematologia. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Research Center. Hematology-Oncology Program. Rio de Janeiro, RJ, Brazil.Instituto Nacional de Câncer. Research Center. Hematology-Oncology Program. Rio de Janeiro, RJ, Brazil.University of São Paulo. Ribeirão Preto School of Medicine. Department of Internal Medicine. Ribeirão Preto, SP, Brazil.Instituto Nacional de Câncer. Research Center. Hematology-Oncology Program. Rio de Janeiro, RJ, Brazil.Hospital dos Servidores do Estado. Infectious Diseases Department. Rio de Janeiro, RJ, Brazil.Oncologia D’Or. Division of Hematology. Rio de Janeiro, RJ, Brazil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Pesquisa em Timo. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Nacional de Ciência e Tecnologia em NeuroImunomodulação. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Laboratório de Micologia. Rio de Janeiro, RJ, BrasilUniversity of São Paulo. Ribeirão Preto School of Medicine. Department of Internal Medicine. Ribeirão Preto, SP, Brazil.Instituto Nacional de Câncer. Research Center. Hematology-Oncology Program. Rio de Janeiro, RJ, Brazil.Background: GATA2 is a transcription factor that is a critical regulator of gene expression in hematopoietic cells. GATA2 deficiency presents with multi-lineage cytopenia, mycobacterial, fungal and viral infections. Patients with GATA2 mutation have a high risk of developing myelodysplastic syndrome or acute myeloid leukemia. Case presentation: We described a 43 years-old white male with 20-year follow-up of autoimmune and thrombotic phenomena, hypothyroidism, disseminated refractory Mycobacterium kansasii infection and MonoMAC syndrome. GATA2 c.1061 C > T; p.T354 M mutation was identified after he progressed from myelodysplastic pancytopenia to refractory anemia with excess blasts type II. His relatives were also investigated and he underwent unsuccessful haematopoietic stem cell transplantation. We discuss the clinical features, genetic diagnosis and treatment of this immunodeficiency disorder. Conclusions: This case illustrates the challenge how a multidisciplinary disease should be handle. Once usual causes of immunodeficiency were excluded, clinicians should consider GATA2 deficiency in patients with myelodysplasia and long-standing Mycobacterium kansasii infection.GATA-2 mutationMonoMAC syndromeMyelodysplastic syndromeMyelodysplasiaMycobacteriuminfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-83104https://www.arca.fiocruz.br/bitstream/icict/33351/1/license.txt79178e5f2a0eb066867a274556814938MD51ORIGINALve_ Mendes-de-Almeida_Daniela_etal_INI_2019.pdfve_ Mendes-de-Almeida_Daniela_etal_INI_2019.pdfapplication/pdf1395471https://www.arca.fiocruz.br/bitstream/icict/33351/2/ve_%20Mendes-de-Almeida_Daniela_etal_INI_2019.pdf94a8c3259124bbd14eb3b8fd7400b688MD52TEXTve_ Mendes-de-Almeida_Daniela_etal_INI_2019.pdf.txtve_ Mendes-de-Almeida_Daniela_etal_INI_2019.pdf.txtExtracted 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dc.title.pt_BR.fl_str_mv GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
title GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
spellingShingle GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
Mendes-de-Almeida, Daniela Palheiro
GATA-2 mutation
MonoMAC syndrome
Myelodysplastic syndrome
Myelodysplasia
Mycobacterium
title_short GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
title_full GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
title_fullStr GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
title_full_unstemmed GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
title_sort GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
author Mendes-de-Almeida, Daniela Palheiro
author_facet Mendes-de-Almeida, Daniela Palheiro
Andrade, Francianne Gomes
Borges, Gustavo
Santos-Bueno, Filipe V. dos
Vieira, Iracema F.
Rocha, Luana Kelly M. da S. da
Mendes-da-Cruz, Daniella A.
Zancopé-Oliveira, Rosely M.
Calado, Rodrigo T.
Pombo-de-Oliveira, Maria S.
author_role author
author2 Andrade, Francianne Gomes
Borges, Gustavo
Santos-Bueno, Filipe V. dos
Vieira, Iracema F.
Rocha, Luana Kelly M. da S. da
Mendes-da-Cruz, Daniella A.
Zancopé-Oliveira, Rosely M.
Calado, Rodrigo T.
Pombo-de-Oliveira, Maria S.
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Mendes-de-Almeida, Daniela Palheiro
Andrade, Francianne Gomes
Borges, Gustavo
Santos-Bueno, Filipe V. dos
Vieira, Iracema F.
Rocha, Luana Kelly M. da S. da
Mendes-da-Cruz, Daniella A.
Zancopé-Oliveira, Rosely M.
Calado, Rodrigo T.
Pombo-de-Oliveira, Maria S.
dc.subject.en.pt_BR.fl_str_mv GATA-2 mutation
MonoMAC syndrome
Myelodysplastic syndrome
Myelodysplasia
Mycobacterium
topic GATA-2 mutation
MonoMAC syndrome
Myelodysplastic syndrome
Myelodysplasia
Mycobacterium
description Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Divisão de Hematologia. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Research Center. Hematology-Oncology Program. Rio de Janeiro, RJ, Brazil.
publishDate 2019
dc.date.accessioned.fl_str_mv 2019-06-04T12:26:06Z
dc.date.available.fl_str_mv 2019-06-04T12:26:06Z
dc.date.issued.fl_str_mv 2019
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv MENDES-DE-ALMEIDA, Daniela Palheiro et al. GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report. BMC Medical Genetics, v. 20, n.1, p. 1-6, 2019.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/33351
dc.identifier.issn.pt_BR.fl_str_mv 1471-2350
dc.identifier.doi.none.fl_str_mv 10.1186/s12881-019-0799-6
dc.identifier.eissn.none.fl_str_mv 1471-2350
identifier_str_mv MENDES-DE-ALMEIDA, Daniela Palheiro et al. GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report. BMC Medical Genetics, v. 20, n.1, p. 1-6, 2019.
1471-2350
10.1186/s12881-019-0799-6
url https://www.arca.fiocruz.br/handle/icict/33351
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv BMC
publisher.none.fl_str_mv BMC
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
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