Activated phosphoinositide 3-kinase δ syndrome
10.3760/cma.j.issn.2095-428X.2018.04.004
- VernacularTitle:活化的磷脂酰肌醇3-激酶δ综合征
- Author:
Jianxin HE
1
Author Information
1. 100045 国家儿童医学中心,首都医科大学附属北京儿童医院呼吸科,国家呼吸系统疾病临床医学研究中心
- Keywords:
Gain-of-function phosphoinositide 3-kinase δ deficiency;
Sinopulmonary infections;
Lymphoproliferation;
Child
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(4):256-259
- CountryChina
- Language:Chinese
-
Abstract:
Activated phosphoinositide 3-kinase δ (PIK3CD) syndrome is a combined immunodeficiency,caused by PIK3CD gain-of-function mutations,which encodes the catalytic subunit of PIK3CD.These patients presented with early onset sinopulmonary infections,lymphoproliferation,herpesvirus infections,autoinflammatory disease,lymphoma and mental retardation.Hyper immunoglobulin (Ig)M,IgG deficiency,CD4 lymphopenia were common immunologic features.Variable expression can lead to death and asymptom.Penetrance can be incomplete.Hematopoietie stem cell transplantation should be taken into account for severe cases.
