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磷脂酰肌醇-3-激酶调节亚基1突变患者的播散性感染

Disseminated Infection in Patients With Phosphoinositide-3-Kinase Regulatory Subunit 1 Mutations.

作者信息

Totten Arthur H, Uzel Gulbu, Khil Pavel P, Youn Jung-Ho, Treat Jennifer, Soutar Craig D, Holland Steven M, Dekker John P, Zerbe Christa S

机构信息

Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.

National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

出版信息

Open Forum Infect Dis. 2022 Sep 12;9(9):ofac472. doi: 10.1093/ofid/ofac472. eCollection 2022 Sep.

DOI:10.1093/ofid/ofac472
PMID:36196300
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9522676/
Abstract

is a rare cause of invasive infection in immunodeficient hosts. Phosphatidylinositol 3-kinase, regulatory subunit 1 () mutations predispose patients to sinopulmonary infections, alongside bronchiectasis autoimmunity and lymphoproliferation. We report 2 cases of deficiency with invasive and effective treatment options.

摘要

是免疫缺陷宿主侵袭性感染的罕见原因。磷脂酰肌醇3-激酶调节亚基1（）突变使患者易患鼻窦肺部感染，同时伴有支气管扩张、自身免疫和淋巴细胞增殖。我们报告了2例侵袭性缺乏症病例及有效的治疗方案。