Article

Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: Expanding the phenotype

2023-07-21

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Germline heterozygous gain-of-function (GOF) mutations in the <italic>PIK3CD</italic> gene lead to a rare primary immunodeficiency disease also known as activated phosphoinositide 3-kinase (PI3K) δ syndrome type 1(APDS1). Affected patients present with recurrent infections, increased levels of serum IgM, lymphoproliferation, Epstein-Barr virus (EBV) and cytomegal...

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Literature Corpus work: e2bbc8f4-6a80-5021-8cdd-1255d4c84bf1
DOI: 10.21203/rs.3.rs-3158574/v1

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