GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease

GATA2 deficiency is a rare disease caused by germline heterozygous variants. This mutation is known to cause a decrease in haematopoietic stem cells and a decrease in monocytes, dendritic cells, NK cells, and B cells, leading to various diseases such as haematological, infectious, respiratory, and neurological diseases. The most common respiratory diseases are pulmonary alveolar proteinosis, recurrent respiratory tract infections, and pulmonary hypertension. A patient had recurrent infections since her childhood, and in her 20s developed sensorineural hearing loss, interstitial lung disease, and was diagnosed with mental retardation. Bronchoscopy did not reveal the cause of interstitial lung disease. Exome analysis revealed a GATA2 c.1084C>T p.R362* heterozygous variant. The patient developed pulmonary hypertension as the interstitial lung disease progressed when she was 41 years old and currently requires home oxygen therapy. Early-onset interstitial lung disease may be a rare phenotype of GATA2 deficiency.