Chest 2021 10 3;160(4):1350-1359. Epub 2021 Jun 3.
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Cancer Institute, National Institutes of Health, Bethesda, MD.
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. Read More