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

Introduction: Haploinsufficiency of the hematopoietic transcription factor GATA2 is associ-ated with a broad spectrum of diseases, including infection susceptibility and neoplasms. We aimed to investigate GATA2 variants in patients with non-tuberculous mycobacterial (NTM) and/or fungal infections (FI) without known immunodeficiencies.Method: We performed GATA2 genotyping in patients with NTM and/or FI.Results: Twenty-two patients were enrolled (seventeen FI, four NTM and one with both infec-tions). The pathogenic variant NG_029334.1:g.16287C>T was found in one patient (4.5%) and two asymptomatic offsprings. We also found the likely-benign variant NG_029334.1: g.12080G>A (rs2335052), the benign variant NG_029334.1:g.16225C>T (rs11708606) and the vari-ant of uncertain significance NG_029334.1:g.16201G>A (rs369850507) in 18.2%, 27.3%, and 4.5% of the cases, respectively. Malignant diseases were additionally diagnosed in six patients.Conclusion: Although detected in 45.4% of the patients, most GATA2 variants were benign or likely benign. Identifying a pathogenic variant was essential for driving both the patient's treat-ment and familial counseling. Pathogenic variants carriers should receive genetic counseling, subsequent infection prevention measures and malignancies surveillance. Additionally, case -control genotyping should be carried out in Brazil to investigate whether the observed variants may be associated with susceptibility to opportunistic infections and/or concurrent neoplasms.& COPY; 2022 Associacao Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier Espana, S.L.U. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).