Premature ovarian insufficiency caused by PI3K overactivation syndrome after bone marrow transplantation: a case report

Background: Activated phosphoinositide 3-kinase δ syndrome (APDS) is a rare autosomal dominant primary immune deficiency. In spite of the fact that early second-generation sequencing screening can shorten diagnosis time, due to the low incidence and heterogeneity of APDS, the clinical recognition rate is low, so it is easy to miss and misdiagnose. There is no unified diagnosis and treatment method. Hematopoietic stem cell transplantation (HSCT) is currently the most significant and even the only to cure disease and rebuild immune function. However, hematopoietic stem cell bone marrow transplantation greatly reduces ovarian function, leading to premature ovarian insufficiency (POI). We present a case of POI in APDS after bone marrow transplantation.