GATA2 deficiency with early-onset interstitial pneumonia

Abstract Background GATA2 deficiency is a rare disease caused by a germline heterozygous mutation in the GATA2 gene. This mutation is known to cause a decrease in hematopoietic stem cells and a decrease in monocytes, dendritic cells, NK cells, and B cells, leading to various diseases such as hematological, infectious, and respiratory diseases. Case presentation: In this study, we present a case in which a patient in her 20s developed sensorineural hearing loss, schizophrenia, and interstitial pneumonia, leading to the diagnosis of GATA2 deficiency. The patient later developed pulmonary hypertension as the interstitial pneumonia progressed. Conclusions Early-onset interstitial pneumonia may be a rare phenotype of GATA2 deficiency.