A updated review on Activated PI3 kinase delta syndrome (APDS)

Publication date: Available online 14 October 2019Source: Genes & DiseasesAuthor(s): Ankita Singh, Vibhu Joshi, Ankur Kumar Jindal, Babu Mathew, Amit RawatAbstractActivated Phosphoinositide 3-kinase δ syndrome (APDS) is a newly recognised primary immunodeficiency disease. It has been currently 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. mTOR inhibitors such as Rapamycin and selective PI3KD inhibitors have been highly effective in this regard. We provide a comprehensive review on this interesting disorder focussing light on its etiology, genetic research and emerging therapy.
Source: Genes and Diseases - Category: Genetics & Stem Cells Source Type: research