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Interstitial Lung Disease in a Girl with Prolidase Deficiency.

作者信息

Xu Chunna, Zhang Lei, Tang Yu, Yang Haiming, Shen Yuelin

机构信息

Respiratory Department, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, 450018, China.

Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, NO.56, Nanlishi Road, Beijing, 100045, China.

出版信息

J Clin Immunol. 2025 Feb 4;45(1):71. doi: 10.1007/s10875-025-01861-7.

DOI:10.1007/s10875-025-01861-7
PMID:39903395
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11794399/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ad2/11794399/8749792b0112/10875_2025_1861_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ad2/11794399/3bf0be3110a9/10875_2025_1861_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ad2/11794399/8749792b0112/10875_2025_1861_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ad2/11794399/3bf0be3110a9/10875_2025_1861_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ad2/11794399/8749792b0112/10875_2025_1861_Fig2_HTML.jpg

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1
Interstitial Lung Disease in a Girl with Prolidase Deficiency.一名患有氨肽酶缺乏症女孩的间质性肺疾病
J Clin Immunol. 2025 Feb 4;45(1):71. doi: 10.1007/s10875-025-01861-7.
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本文引用的文献

1
Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in .利妥昔单抗治疗原发性脯氨酰肽酶缺乏症：一种新的致病性拷贝数变异。
RMD Open. 2023 Dec 7;9(4):e003507. doi: 10.1136/rmdopen-2023-003507.
2
Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.扩展脯氨酰肽酶缺乏症的临床和免疫学表型：病例报告。
Pediatr Dermatol. 2024 Jan-Feb;41(1):115-118. doi: 10.1111/pde.15413. Epub 2023 Aug 13.
3
An Infant With Interstitial Lung Disease of Rare Cause.一例罕见病因所致间质性肺病婴儿。
Chest. 2022 May;161(5):e273-e278. doi: 10.1016/j.chest.2021.12.639.
4
A case of prolidase deficiency in a male patient.男性脯氨酰肽酶缺乏症 1 例
Pediatr Dermatol. 2022 Jan;39(1):94-98. doi: 10.1111/pde.14890. Epub 2021 Dec 9.
5
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.脯氨酸肽酶缺乏症自然病史的定量分析：17 个家系的描述及已发表病例的系统回顾
Genet Med. 2021 Sep;23(9):1604-1615. doi: 10.1038/s41436-021-01200-2. Epub 2021 May 26.
6
An Adult with Recurrent Severe Pneumococcal Pneumonia Secondary to Prolidase Deficiency.一名因脯氨酰寡肽酶缺乏继发复发性重症肺炎球菌肺炎的成年人。
Isr Med Assoc J. 2021 Mar;23(3):193-195.
7
Clinical Genetics of Prolidase Deficiency: An Updated Review.脯氨酰寡肽酶缺乏症的临床遗传学：最新综述
Biology (Basel). 2020 May 21;9(5):108. doi: 10.3390/biology9050108.
8
Prolidase deficiency: a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult.脯氨酰二肽酶缺乏症：成人合并肺纤维化和肺气肿综合征的一种新的遗传病因。
Eur Respir J. 2020 Apr 9;55(4). doi: 10.1183/13993003.01952-2019. Print 2020 Apr.
9
Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis.通过全外显子组测序诊断一名患有肺毛细血管炎儿童的脯氨酰肽酶缺乏症。
ERJ Open Res. 2019 Apr 26;5(2). doi: 10.1183/23120541.00205-2018. eCollection 2019 Apr.
10
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.通过阵列比较基因组杂交在一名墨西哥裔美国患者中发现的脯氨酰二肽酶缺乏症揭示了一种新的且是最大的PEPD基因缺失。
Mol Syndromol. 2016 May;7(2):80-6. doi: 10.1159/000445397. Epub 2016 Apr 14.