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

Author(s)

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]

Affiliation

^[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

• Document type: Journal article
• Source: BMC MEDICAL GENETICS; v. 20, APR 29 2019.
• Web of Science Citations: 1

Abstract

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)

• FAPESP's process: 14/26379-9 - Mutational analysis of GATA2 gene and immunological alterations in patientes with bone marrow failure
• Grantee: Gustavo Borges
• Support type: Scholarships in Brazil - Master
• FAPESP's process: 13/08135-2 - CTC - Center for Cell-Based Therapy
• Grantee: Dimas Tadeu Covas
• Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC