Advances in phenotyping activated phosphoinositide 3-kinase-delta syndrome type 1 and type 2
10.3760/cma.j.issn.1673-4408.2022.10.013
- VernacularTitle:磷脂酰肌醇3激酶δ过度活化综合征1型与2型临床特征差异的研究进展
- Author:
Lu HE
1
;
Xinglou LIU
Author Information
1. 华中科技大学同济医学院附属同济医院儿科，武汉 430030
- Keywords:
Activated phosphoinositide 3-kinase-delta syndrome;
APDS2;
APDS1;
Primary immunodeficiency disease;
Phosphoinositide 3-kinase
- From:
International Journal of Pediatrics
2022;49(10):703-707
- CountryChina
- Language:Chinese
-
Abstract:
Activated phosphoinositide 3-kinase-delta syndrome(APDS) is a rare autosomal dominant primary immunodeficiency disease.According to mutation types, APDS is divided into two types, APDS1 and APDS2.APDS1 patients have more susceptibility to develop bronchiectasis, sinusitis, hepatomegaly, splenomegaly, asthma, autoimmune or inflammatory diseases, and are more frequently infected with Streptococcus pneumoniae and Haemophilus influenzae, while APDS2 patients are more prone to get pneumonia, eye infection, and lymphadenopathy, malignancy, neurological and growth retardation.Among the immunological features, the T cell count of APDS1 is significantly low, and APDS2 is more obvious to appear elevated IgM levels.Rapamycin is beneficial for both types of APDS, and Leniolisib is better tolerated in patients with APDS1.This article reviews the differences in pathogenesis, clinical manifestations, immunological characteristics, and treatment between APDS1 and APDS2 to improve the understanding by clinicians.
