Journal of Internal Medicine Concepts & Practice >

2024 , Vol. 19 >Issue 02: 140 - 143

DOI: https://doi.org/10.16138/j.1673-6087.2024.02.10

Review

Progress in treatment of activated phosphoinositide 3-kinase δ syndrome

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  • Department of Hematology, The 940th Hospital of Joint Logistics Support Force of the Chinese People’s Liberation Army, Lanzhou 730050, China

Received date: 2023-06-20

  Online published: 2024-07-08

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Abstract

Phosphoinositide 3-kinase δ (PI3Kδ) activated phosphoinositide 3-kinase δ syndrome (APDS) was first reported in 2013. APDS is an autosomal dominant primary immunodeficiency disease (PID) caused by mutations in the PIK3CD gene or PIK3R1 gene. The clinical manifestations of APDS are recurrent respiratory tract infection, non-neoplastic lymphoid hyperplasia, autoimmune diseases and lymphoma. In this paper, the treatment of APDS is introduced in detail. In addition to conventional treatment for immunodeficiency, treatment such as antimicrobial prophylaxis, immunoglobulin replacement therapy and hematopoietic stem cell transplantation were reviewed, and more specific mammalian target of rapamycin (mTOR) inhibitors and PI3Kδ inhibitors were also discussed.

Key words： PI3Kδ overactivation syndrome; Hematopoietic stem cell transplantation; mTOR inhibitor; PI3Kδ inhibitor

Cite this article

WU Tao, LIU Wenhui . Progress in treatment of activated phosphoinositide 3-kinase δ syndrome[J]. Journal of Internal Medicine Concepts & Practice, 2024 , 19(02) : 140 -143 . DOI: 10.16138/j.1673-6087.2024.02.10

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