| Author | Mendes-de-Almeida, Daniela Palheiro | |
| Author | Andrade, Francianne Gomes | |
| Author | Borges, Gustavo | |
| Author | Santos-Bueno, Filipe V. dos | |
| Author | Vieira, Iracema F. | |
| Author | Rocha, Luana Kelly M. da S. da | |
| Author | Mendes-da-Cruz, Daniella A. | |
| Author | Zancopé-Oliveira, Rosely M. | |
| Author | Calado, Rodrigo T. | |
| Author | Pombo-de-Oliveira, Maria S. | |
| Access date | 2019-06-04T12:26:06Z | |
| Available date | 2019-06-04T12:26:06Z | |
| Document date | 2019 | |
| Citation | 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. | pt_BR |
| ISSN | 1471-2350 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/33351 | |
| Language | eng | pt_BR |
| Publisher | BMC | pt_BR |
| Rights | open access | |
| Title | GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report | pt_BR |
| Type | Article | |
| DOI | 10.1186/s12881-019-0799-6 | |
| Abstract | 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. | pt_BR |
| Affilliation | 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. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Research Center. Hematology-Oncology Program. Rio de Janeiro, RJ, Brazil. | pt_BR |
| Affilliation | University of São Paulo. Ribeirão Preto School of Medicine. Department of Internal Medicine. Ribeirão Preto, SP, Brazil. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Research Center. Hematology-Oncology Program. Rio de Janeiro, RJ, Brazil. | pt_BR |
| Affilliation | Hospital dos Servidores do Estado. Infectious Diseases Department. Rio de Janeiro, RJ, Brazil. | pt_BR |
| Affilliation | Oncologia D’Or. Division of Hematology. Rio de Janeiro, RJ, Brazil. | pt_BR |
| Affilliation | 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. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Laboratório de Micologia. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | University of São Paulo. Ribeirão Preto School of Medicine. Department of Internal Medicine. Ribeirão Preto, SP, Brazil. | pt_BR |
| Affilliation | Instituto Nacional de Câncer. Research Center. Hematology-Oncology Program. Rio de Janeiro, RJ, Brazil. | pt_BR |
| Subject | GATA-2 mutation | pt_BR |
| Subject | MonoMAC syndrome | pt_BR |
| Subject | Myelodysplastic syndrome | pt_BR |
| Subject | Myelodysplasia | pt_BR |
| Subject | Mycobacterium | pt_BR |
| e-ISSN | 1471-2350 | |
