Journal
GENES & DISEASES
Volume 7, Issue 1, Pages 67-74Publisher
ELSEVIER
DOI: 10.1016/j.gendis.2019.09.015
Keywords
Activated phosphoinositide 3-kinase delta syndrome (APDS); Gain of function; Immunodeficiency; Lymphadenopathy; Lymphoproliferation; p110 delta-activating mutation causing senescent T cells
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Activated Phosphoinositide 3-kinase delta 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 PI3K delta inhibitors. We provide a comprehensive review on this interesting disorder focusing light on its etiology, genetic research and emerging therapy. Copyright (C) 2019, Chongqing Medical University. Production and hosting by Elsevier B.V.
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