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Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with gene mutation ineffectively treated with ruxolitinib.

作者信息

Bazan-Socha Stanisława, Gradzikiewicz Ada, Celińska-Lowenhoff Magdalena, Matyja-Bednarczyk Aleksandra, Maciołek Anna, Bąbol-Pokora Katarzyna

机构信息

Department of Internal Medicine, Jagiellonian University Medical College, Cracow, Poland.

Department of Metabolic Diseases and Diabetology, Jagiellonian University Medical College, Cracow, Poland.

出版信息

Cent Eur J Immunol. 2022;47(1):92-94. doi: 10.5114/ceji.2022.114884. Epub 2022 May 10.

DOI:10.5114/ceji.2022.114884
PMID:35600161
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9115595/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e659/9115595/afb2c2e63e55/CEJI-47-46714-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e659/9115595/afb2c2e63e55/CEJI-47-46714-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e659/9115595/afb2c2e63e55/CEJI-47-46714-g001.jpg

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本文引用的文献

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N Engl J Med. 2020 Oct 8;383(15):1494-1496. doi: 10.1056/NEJMc2022226.
2
Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation.芦可替尼治疗因 STAT1 功能获得性突变导致的类固醇依赖的严重自身免疫患者。
Int J Hematol. 2020 Aug;112(2):258-262. doi: 10.1007/s12185-020-02860-7. Epub 2020 Mar 16.
3
Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Infection in HIV-Negative Children.
STAT1 功能获得性突变患者表现出凋亡增加，而 JAK 抑制剂芦可替尼可逆转这一现象。
J Clin Immunol. 2024 Apr 5;44(4):85. doi: 10.1007/s10875-024-01684-y.
流式细胞术在 HIV 阴性儿童播散性感染相关原发性免疫缺陷症诊断中的应用。
Front Immunol. 2019 Sep 13;10:2189. doi: 10.3389/fimmu.2019.02189. eCollection 2019.
4
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.新型 STAT1 功能获得性突变导致的慢性黏膜皮肤念珠菌病患儿使用芦可替尼的疗效。
J Clin Immunol. 2018 Jul;38(5):589-601. doi: 10.1007/s10875-018-0519-6. Epub 2018 Jun 22.
5
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.鲁索替尼可逆转失调的辅助性T细胞反应，并控制由一种新型信号转导及转录激活因子1（STAT1）功能获得性突变引起的自身免疫。
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8
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