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

Autor: Mendes-de-Almeida DP; Division of Hematology, Evandro Chagas National Institute of Infectology, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.; Pediatric Hematology-Oncology Program, 6thfloor, Research Center, Instituto Nacional de Câncer-INCa, Rua André Cavalcanti, 37, Rio de Janeiro, Zip code: 20231- 050, Brazil., Andrade FG; Pediatric Hematology-Oncology Program, 6thfloor, Research Center, Instituto Nacional de Câncer-INCa, Rua André Cavalcanti, 37, Rio de Janeiro, Zip code: 20231- 050, Brazil., Borges G; Department of Internal Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, Brazil., Dos Santos-Bueno FV; Pediatric Hematology-Oncology Program, 6thfloor, Research Center, Instituto Nacional de Câncer-INCa, Rua André Cavalcanti, 37, Rio de Janeiro, Zip code: 20231- 050, Brazil., Vieira IF; Infectious Diseases Department, Hospital dos Servidores do Estado, Rio de Janeiro, Brazil., da Rocha LKMDS; Division of Hematology, Oncologia D'Or, Rio de Janeiro, Brazil., Mendes-da-Cruz DA; Laboratory on Thymus Research, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.; Institute of Science and Technology on Neuroimmunomodulation (INCT-NIM), Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, RJ, Brazil., Zancopé-Oliveira RM; Laboratory of Mycology, Evandro Chagas National Institute of Infectology, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil., Calado RT; Department of Internal Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, Brazil., Pombo-de-Oliveira MS; Pediatric Hematology-Oncology Program, 6thfloor, Research Center, Instituto Nacional de Câncer-INCa, Rua André Cavalcanti, 37, Rio de Janeiro, Zip code: 20231- 050, Brazil. mpombo@inca.gov.br.
Jazyk: angličtina
Zdroj: BMC medical genetics [BMC Med Genet] 2019 Apr 29; Vol. 20 (1), pp. 64. Date of Electronic Publication: 2019 Apr 29.
DOI: 10.1186/s12881-019-0799-6
Abstrakt: 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 considerGATA2 deficiency in patients with myelodysplasia and long-standing Mycobacterium kansasii infection.
Databáze: MEDLINE
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