| Author | Mendes-de-Almeida, Daniela P. | |
| Author | Andrade, Francianne G. | |
| Author | Santos-Bueno, Filipe V. dos | |
| Author | Freitas, Dayvison Francis Saraiva | |
| Author | Soares-Lima, Sheila C. | |
| Author | Zancopé-Oliveira, Rosely M. | |
| Author | Pombo-de-Oliveira, Maria S. | |
| Access date | 2022-05-25T20:29:29Z | |
| Available date | 2022-05-25T20:29:29Z | |
| Document date | 2022 | |
| Citation | MENDES-DE-ALMEIDA, Daniela P. et al. GATA2 variants in patients with non-tuberculous mycobacterial or fungal infections without known immunodeficiencies. Hematology, Transfusion and Cell Therapy, n. 22, p. 1-6, 2022. | |
| ISSN | 2531-1379 | |
| URI | https://www.arca.fiocruz.br/handle/icict/52896 | |
| Language | eng | en_US |
| Publisher | Elsevier | |
| Later version | https://www.arca.fiocruz.br/handle/icict/64703 | |
| Rights | open access | |
| Title | GATA2 variants in patients with non-tuberculous mycobacterial or fungal infections without known immunodeficiencies | en_US |
| Type | Preprint | |
| DOI | 10.1016/j.htct.2022.01.014 | |
| Abstract | Introduction: Haploinsufficiency of the hematopoietic transcription factor GATA2 is associated 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 infections). 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 variant 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 treatment 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. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Câncer. Rio de Janeiro, RJ, Brasil / University of Minnesota. Minneapolis, MN, USA. | |
| Affilliation | Instituto Nacional de Câncer. Rio de Janeiro, RJ, Brasil. | |
| Affilliation | Instituto Nacional de Câncer. Rio de Janeiro, RJ, Brasil. | |
| Affilliation | Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brasil. | |
| Affilliation | Instituto Nacional de Câncer. Rio de Janeiro, RJ, Brasil. | |
| Subject | Fungal infection | en_US |
| Subject | GATA2 transcription factor | en_US |
| Subject | MonoMAC syndrome | en_US |
| Subject | Non-tuberculous mycobacterial infection | en_US |
| Subject | Primary immunodeficiency | en_US |
