GATA2 variants in patients with non-tuberculous mycobacterial or fungal infections without known immunodeficiencies
Hematol., Transfus. Cell Ther. (Impr.)
; 45(2): 211-216, Apr.-June 2023. tab, ilus
Article
in En
| LILACS
| ID: biblio-1448337
Responsible library:
BR408.1
Localization: B408.1
ABSTRACT
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_029334.1g.16287C>T was found in one patient (4.5%) and two asymptomatic offsprings. We also found the likely-benign variant NG_029334.1g.12080G>A (rs2335052), the benign variant NG_029334.1g.16225C>T (rs11708606) and the variant of uncertain significance NG_029334.1g.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.
Key words
Full text:
1
Index:
LILACS
Main subject:
GATA2 Deficiency
/
Nontuberculous Mycobacteria
Type of study:
Prognostic_studies
Limits:
Adult
/
Aged
/
Humans
Language:
En
Journal:
Hematol., Transfus. Cell Ther. (Impr.)
Journal subject:
Hematologia
/
TransfusÆo de Sangue
Year:
2023
Type:
Article