GATA2 deficiency with early-onset interstitial pneumonia

Background GATA 2 deficiency is a rare disease caused by a germline heterozygous mutation in the GATA 2 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 GATA 2 deficiency. The patient later developed pulmonary hypertension as the interstitial pneumonia progressed. Conclusions Early-onset interstitial pneumonia may be a rare phenotype of GATA 2 deficiency.