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X连锁无丙种球蛋白血症患者中，耐大环内酯类肺炎支原体引起的脊髓内冷脓肿相关的异常T细胞功能

Abnormal T Cells Function Associated With Intraspinal Cold Abscess Caused by Macrolide-resistant Mycoplasma pneumoniae in a Patient With X-linked Agammaglobulinemia.

作者信息

Jin Ying-Ying, Wu Jing, Ding Fei, Huang Hua, Xu Xue-Mei, Chen Qi-Min, Yin Min-Zhi, Zhong Yu-Min, Jin Yan-Liang

机构信息

From the Departments of Rheumatology/Immunology.

Allergy/Immunology Innovation Team.

出版信息

Pediatr Infect Dis J. 2025 Feb 1;44(2):e45-e48. doi: 10.1097/INF.0000000000004569. Epub 2024 Oct 1.

DOI:10.1097/INF.0000000000004569
PMID:39348496
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11731065/
Abstract

Intraspinal cold abscesses caused by macrolide-resistant Mycoplasma pneumoniae in patients with X-linked agammaglobulinemia have not yet been described to our knowledge. Here we describe a patient with X-linked agammaglobulinemia who developed an intraspinal cold abscess caused by macrolide-resistant M. pneumoniae . Genetic analysis revealed a hemizygous c.1566 + 1G > C (IVS15 + 1G > C) mutation in BTK gene. The patient showed relatively naive T cells and a significant proliferative defect.

摘要

据我们所知，X连锁无丙种球蛋白血症患者中由大环内酯耐药肺炎支原体引起的脊髓内冷脓肿尚未见报道。在此，我们描述了一名患有X连锁无丙种球蛋白血症的患者，他发生了由大环内酯耐药肺炎支原体引起的脊髓内冷脓肿。基因分析显示BTK基因存在半合子c.1566 + 1G > C（IVS15 + 1G > C）突变。该患者表现出相对幼稚的T细胞和明显的增殖缺陷。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/345a/11731065/4658f854c705/inf-44-e45-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/345a/11731065/2ed515593fe1/inf-44-e45-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/345a/11731065/4658f854c705/inf-44-e45-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/345a/11731065/2ed515593fe1/inf-44-e45-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/345a/11731065/4658f854c705/inf-44-e45-g002.jpg

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本文引用的文献

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X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry.X 连锁无丙种球蛋白血症：美国免疫缺陷网络注册研究中的感染频率和感染相关死亡率。
J Clin Immunol. 2022 May;42(4):827-836. doi: 10.1007/s10875-022-01237-1. Epub 2022 Mar 15.
2
Targeting RNA with Next- and Third-Generation Sequencing Improves Pathogen Identification in Clinical Samples.靶向 RNA 的新一代和第三代测序提高了临床样本中的病原体鉴定。
Adv Sci (Weinh). 2021 Dec;8(23):e2102593. doi: 10.1002/advs.202102593. Epub 2021 Oct 23.
3
Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.
无丙种球蛋白血症：从X连锁型到常染色体显性遗传型疾病
Clin Rev Allergy Immunol. 2022 Aug;63(1):22-35. doi: 10.1007/s12016-021-08870-5. Epub 2021 Jul 9.
4
Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia.X 连锁无丙种球蛋白血症致诺如病毒相关性肠衰竭的造血干细胞移植。
J Clin Immunol. 2021 Oct;41(7):1574-1581. doi: 10.1007/s10875-021-01088-2. Epub 2021 Jun 23.
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Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia.X 连锁无丙种球蛋白血症患者的感染现状。
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-Specific IFN-γ-Producing CD4 Effector-Memory T Cells Correlate with Pulmonary Disease.-产生特异性干扰素-γ的CD4效应记忆T细胞与肺部疾病相关。
Am J Respir Cell Mol Biol. 2021 Jan;64(1):143-146. doi: 10.1165/rcmb.2020-0237LE.
7
Allele-specific real-time PCR testing for minor macrolide-resistant Mycoplasma Pneumoniae.针对小剂量大环内酯类耐药肺炎支原体的等位基因特异性实时 PCR 检测。
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