CTICasesGATA2 Deficiency Lung Disease
Imaging findings
Serial chest radiographs and CT scans over 9 years show progressive, severe upper-lobe-predominant cystic lung destruction, periseptal emphysema, perilymphatic nodular thickening, and persistent ground-glass opacities in a young non-smoker.
Key takeaways
GATA2 deficiency is a genetic disorder of hematopoiesis that can cause pulmonary manifestations such as pulmonary alveolar proteinosis (PAP) and progressive, atypical cystic lung destruction mimicking emphysema or LCH in young non-smokers.
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