Yuriko Sugiura, Takahiro Ando, Hirokazu Urushiyama, Akihisa Mitani, Goh Tanaka, Kenichi Kashimada, Tomohiro Morio, Hidenori Kage
University of Tokyo. Institute of Science Tokyo.
Japan
Respirology Case Reports
Respirol Case Rep 2025; 13:
DOI: 10.1002/rcr2.70165
Abstract
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.
Category
Class III. Pulmonary Hypertension Associated with Lung Disease
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes