Pulmonary Manifestations of GATA2 Deficiency.

ABSTRACT:

Background

GATA2 deficiency is a genetic disorder of hematopoiesis, lymphatics, and immunity caused by autosomal dominant or sporadic mutations in GATA2. The disease has a broad phenotype encompassing immunodeficiency, myelodysplasia, leukemia, and vascular or lymphatic dysfunction as well as prominent pulmonary manifestations.

Research question

What are the pulmonary manifestations of GATA2 deficiency?

Study design and methods

A retrospective review was conducted of clinical medical records, diagnostic imaging, pulmonary pathologic specimens, and tests of pulmonary function.

Results

Of 124 patients (95 probands and 29 ascertained), the lung was affected in 56%. In addition to chronic infections, pulmonary alveolar proteinosis (11 probands) and pulmonary arteri

SUBMITTER: Marciano BE 

PROVIDER: S-EPMC8546236 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature