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

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 signif

SUBMITTER: Mendes-de-Almeida DP 

PROVIDER: S-EPMC10244242 | biostudies-literature | 2023 Apr-Jun

REPOSITORIES: biostudies-literature