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

Autor(es)

Mendes-de-Almeida, Daniela Palheiro ^{[1, 2]} ; Andrade, Francianne Gomes ^[1] ; Borges, Gustavo ^[3] ; dos Santos-Bueno, Filipe V. ^[1] ; Vieira, Iracema F. ^[4] ; da Rocha, Luana Kelly M. da S. ^[5] ; Mendes-da-Cruz, Daniella A. ^{[6, 7]} ; Zancope-Oliveira, Rosely M. ^[8] ; Calado, Rodrigo T. ^[3] ; Pombo-de-Oliveira, Maria S. ^[1]

Afiliação do(s) autor(es)

^[1] Inst Nacl Canc INCa, Res Ctr, Pediat Hematol Oncol Program, 6thfloor, Rua Andre Cavalcanti 37, BR-20231050 Rio De Janeiro - Brazil

^[2] Fundacao Oswaldo Cruz, Evandro Chagas Natl Inst Infectol, Div Hematol, Rio De Janeiro - Brazil

^[3] Univ Sao Paulo, Ribeirao Preto Sch Med, Dept Internal Med, Ribeirao Preto - Brazil

^[4] Hosp Servidores Estado, Infect Dis Dept, Rio De Janeiro - Brazil

^[5] Oncologia DOr, Div Hematol, Rio De Janeiro - Brazil

^[6] Fundacao Oswaldo Cruz, Inst Oswaldo Cruz, Lab Thymus Res, Rio De Janeiro - Brazil

^[7] Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Inst Sci & Technol Neuroimmunomodulat INC NIM, Rio De Janeiro, RJ - Brazil

^[8] Fundacao Oswaldo Cruz, Evandro Chagas Natl Inst Infectol, Lab Mycol, Rio De Janeiro - Brazil

• Tipo de documento: Artigo Científico
• Fonte: BMC MEDICAL GENETICS; v. 20, APR 29 2019.
• Citações Web of Science: 1

Resumo

BackgroundGATA2 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 presentationWe described a 43years-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.T354M 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.ConclusionsThis 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. (AU)

• Processo FAPESP: 14/26379-9 - Análise mutacional do gene GATA2 e de alterações imunológicas em pacientes com síndromes de falência medular
• Beneficiário: Gustavo Borges
• Modalidade de apoio: Bolsas no Brasil - Mestrado
• Processo FAPESP: 13/08135-2 - CTC - Centro de Terapia Celular
• Beneficiário: Dimas Tadeu Covas
• Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs