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A survey of diagnosis and therapy of inborn errors of immunity among practice-based physicians and clinic-based pneumologists and hemato-oncologists.

作者信息

Lehrnbecher Thomas, Russo Alexandra, Rohde Gernot

机构信息

Department of Pediatrics, Division of Hematology, Oncology and Hemostaseology, Johann Wolfgang Goethe University, Frankfurt/Main, Germany.

Department of Pediatric Hematology/Oncology, Center for Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University, Mainz, Germany.

出版信息

Front Immunol. 2025 Jun 5;16:1597635. doi: 10.3389/fimmu.2025.1597635. eCollection 2025.

DOI:10.3389/fimmu.2025.1597635
PMID:40539071
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12177555/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/8446780b7eb9/fimmu-16-1597635-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/a3a5d81f80ab/fimmu-16-1597635-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/3dd73f244281/fimmu-16-1597635-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/777bf0afc862/fimmu-16-1597635-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/e3b3ad82b5f3/fimmu-16-1597635-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/6f729048a51b/fimmu-16-1597635-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/92d214dd684c/fimmu-16-1597635-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/8446780b7eb9/fimmu-16-1597635-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/a3a5d81f80ab/fimmu-16-1597635-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/3dd73f244281/fimmu-16-1597635-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/777bf0afc862/fimmu-16-1597635-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/e3b3ad82b5f3/fimmu-16-1597635-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/6f729048a51b/fimmu-16-1597635-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/92d214dd684c/fimmu-16-1597635-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84cf/12177555/8446780b7eb9/fimmu-16-1597635-g007.jpg

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本文引用的文献

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The Dark Side of Activated Phosphoinositide 3-Kinase-δ Syndrome 2: A Story Rewritten through FDG-PET.活化磷脂酰肌醇3激酶δ综合征2的阴暗面:通过氟代脱氧葡萄糖正电子发射断层扫描改写的故事
J Clin Med. 2024 Apr 11;13(8):2203. doi: 10.3390/jcm13082203.
2
Immunoglobulin replacement therapies in inborn errors of immunity: a review.免疫球蛋白替代疗法在先天性免疫缺陷病中的应用:综述
Front Pediatr. 2024 Feb 15;12:1368755. doi: 10.3389/fped.2024.1368755. eCollection 2024.
3
Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correction.
通过TALEN介导的PIK3CD基因校正挽救APDS1患者T细胞的细胞溶解功能。
Mol Ther Methods Clin Dev. 2023 Oct 10;31:101133. doi: 10.1016/j.omtm.2023.101133. eCollection 2023 Dec 14.
4
Inborn errors of immunity: an expanding universe of disease and genetic architecture.先天性免疫缺陷:疾病和遗传结构不断扩大的领域。
Nat Rev Genet. 2024 Mar;25(3):184-195. doi: 10.1038/s41576-023-00656-z. Epub 2023 Oct 20.
5
Precision medicine: The use of tailored therapy in primary immunodeficiencies.精准医学:原发性免疫缺陷病的靶向治疗。
Front Immunol. 2022 Dec 8;13:1029560. doi: 10.3389/fimmu.2022.1029560. eCollection 2022.
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Nat Rev Immunol. 2023 Jun;23(6):397-408. doi: 10.1038/s41577-022-00800-6. Epub 2022 Nov 25.
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A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome.一项针对激活的 PI3Kδ 综合征的 PI3Kδ 抑制剂 leniolisib 的随机、安慰剂对照 3 期试验。
Blood. 2023 Mar 2;141(9):971-983. doi: 10.1182/blood.2022018546.
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The lung in inborn errors of immunity: From clinical disease patterns to molecular pathogenesis.先天性免疫缺陷中的肺部疾病:从临床疾病模式到分子发病机制。
J Allergy Clin Immunol. 2022 Dec;150(6):1314-1324. doi: 10.1016/j.jaci.2022.08.024. Epub 2022 Oct 14.
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Immunosuppression in Patients With Primary Immunodeficiency-Walking the Line.原发性免疫缺陷患者的免疫抑制——把握分寸
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Br J Haematol. 2022 Sep;198(5):875-886. doi: 10.1111/bjh.18337. Epub 2022 Jul 6.