Advances on immune pathology mechanism of overactivation of PI3K signal pathway

VernacularTitle:PI3K信号过度活化引发免疫病理机制研究进展
Author: Yan WANG ^{1
,

2} ; Yuantao ZHOU ; Yu ZHANG ; Xiaoli HE ; Lyuyan TAO ; Li LI
Author Information

1. 昆明医科大学附属儿童医院,昆明 650228
2. 昆明市儿童医院,云南省儿科研究所,云南省儿童重大疾病研究重点实验室,昆明 650228
Keywords: Phosphatidylinositol 3-kinases(PI3K); PI3Kδ GOF; Activated PI3Kδ syndrome(APDS); Lymphocyte defective; Immune pathology
From: Chinese Journal of Immunology 2024;40(7):1536-1541,1547
CountryChina
Language:Chinese
Abstract: At present,some studies have identified gain-of-function(GOF)mutations in phosphoinositide 3-kinase(PI3K)genes PIK3CD(which encodes p110δ)lead to activated PI3Kδ syndrome(APDS),which can cause immune deficiency,immune dis-order and even tumor by multiple mechanisms of internal immune system defects,such as reduction/senescence/depletion of T cells,impaired development of B cells,and reduced toxicity of NK cells.Here,we review clinical characteristics of APDS induced by PI3Kδ GOF and molecular mechanism of immune deficiency,focusing on molecular mechanism of lymphocyte development,differentiation and functional defects caused by GOF mutation.