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

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. Electronic supplementary material The online version of this article (10.1186/s12881-019-0799-6) contains supplementary material, which is available to authorized users.

GATA2 variants in patients with non-tuberculous mycobacterial or fungal infections without known immunodeficiencies

“…His complete clinical presentation and pedigree were reported elsewhere. 9 Four patients (18.2%) presented the likely benign variant NG_029334.1:g.12080G>A (rs2335052) in exon 3. We also identified the benign variant NG_029334.1:g.16225C>T (rs11708606) in 6 patients (27.3%), and the VUS NG_029334.1:g.16201G>A (rs369850507) in one patient (4.5%).…”

Multiple Simultaneous Infections With Nontuberculous Mycobacteria in the Setting of GATA2 Mutation and Myelodysplastic Syndrome

“…GATA2 gene is located on chromosome 3q21 and encodes a master transcription factor that is key to the proliferation and maintenance of hematopoietic stem cells and lymphatic angiogenesis [ 4 , 5 ]. GATA2 mutations can lead to a state of haploinsufficiency [ 5 ].…”

An in silico analysis: Deciphering the role of differential expressed genes in tuberculosis in response to bedaquiline antibiotic drug

“…GATA2 regulates the transcription of genes involved in hematopoietic and endocrine cell lineage formation and proliferation. Mutation in the GATA2 gene leads to the development syndrome and is prone to mycobacterial infections [27].…”