Activated Phosphoinositide 3-kinase d syndrome(APDS)is a newly recognised primary immunodeficiency disease.It has currently been a hot topic of clinical research and new data are emerging regarding its pathogenesis,cl...Activated Phosphoinositide 3-kinase d syndrome(APDS)is a newly recognised primary immunodeficiency disease.It has currently been a hot topic of clinical research and new data are emerging regarding its pathogenesis,clinical manifestations and treatment.Patients with APDS syndrome have significant autoimmune manifestations and lymphoproliferation.It is important to differentiate APDS from the usual polygenic CVID in view of the availability of targeted therapy like mTOR inhibitors such as Rapamycin and selective PI3Kd inhibitors.We provide a comprehensive review on this interesting disorder focusing light on its etiology,genetic research and emerging therapy.展开更多
文摘Activated Phosphoinositide 3-kinase d syndrome(APDS)is a newly recognised primary immunodeficiency disease.It has currently been a hot topic of clinical research and new data are emerging regarding its pathogenesis,clinical manifestations and treatment.Patients with APDS syndrome have significant autoimmune manifestations and lymphoproliferation.It is important to differentiate APDS from the usual polygenic CVID in view of the availability of targeted therapy like mTOR inhibitors such as Rapamycin and selective PI3Kd inhibitors.We provide a comprehensive review on this interesting disorder focusing light on its etiology,genetic research and emerging therapy.
