Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype
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Author / Creator
Zhao, Peiwei , Huang, Juan , Fu, Huicong , Xu, Jiali , Li, Tianhong , Zhang, Xiankai , Meng, Qingjie , Zhang, Lei , Tan, Li , Zhang, Wen , Chen, Hebin , Lu, Xiaoxia , Ding, Yan and He, Xuelian
Publisher
England: BioMed Central
Journal title
Language
English
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Publisher
England: BioMed Central
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Scope and Contents
Contents
Germline heterozygous gain-of-function (GOF) mutations in the PIK3CD gene lead to a rare primary immunodeficiency disease known as activated phosphoinositide 3-kinase (PI3K) δ syndrome type 1(APDS1). Affected patients present a spectrum of clinical manifestations, particularly recurrent respiratory infections and lymphoproliferation, increased leve...
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Full title
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_2cbeb84ea3e94977b23db5c4f24a9164
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2cbeb84ea3e94977b23db5c4f24a9164
Other Identifiers
ISSN
1546-0096
E-ISSN
1546-0096
DOI
10.1186/s12969-024-00955-7
