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一个新的 PRKDC 突变导致 SLE-DAH 样症状患者的 B 淋巴细胞 V(D)J 重排紊乱。

A novel PRKDC mutation caused B lymphocytes V(D)J rearrangement disorder in the SLE-DAH like symptoms patient.

机构信息

Department of Pediatrics, The First Affiliated Hospital of Guangzhou Medical University, 151 Yanjiang Rd, Guangzhou, 510120, China.

State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

出版信息

Pediatr Rheumatol Online J. 2023 Aug 14;21(1):84. doi: 10.1186/s12969-023-00840-9.

DOI:10.1186/s12969-023-00840-9
PMID:37580814
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10424403/
Abstract

BACKGROUND

Analyzed the clinical features and treatment process of the patient suffering from immunodeficiency with systemic lupus erythematosus(SLE)-like syndrome in a novel mutation of PRKDC.

CASE PRESENTATION

The patient had multiple positive auto-antibodies, chest CT and bronchoscopy showed Diffuse alveolar hemorrhage(DAH), and psychiatric symptoms showed brain atrophy by magnetic resonance imaging (MRI). Whole exon sequencing showed that novel complex heterozygous mutations of PRKDC gene (C. 1777 - 710_1777-709INSA (IVS16/IC16), C.1337T > A(p.Phe446Tyr). The mature B cell (CD19 + CD27 + CD38 dimIgD IgM-) were absent. The treatment of high-dose methylprednisolone (MP) and cyclophosphamide(CTX) can quickly relieve the symptoms of the patient.

CONCLUSION

We described the case of an infant immunodeficiency with SLE like-syndrome, which may cause by PRKDC mutation, treated successfully with high-dose MP and CTX.

摘要

背景

分析了 PRKDC 新型突变导致的免疫缺陷伴全身性红斑狼疮样综合征患者的临床特征和治疗过程。

病例介绍

患者有多种自身抗体阳性，胸部 CT 和支气管镜检查显示弥漫性肺泡出血（DAH），精神症状显示磁共振成像（MRI）脑萎缩。全外显子测序显示 PRKDC 基因（C.1777-710_1777-709INS（IVS16/IC16），C.1337T＞A（p.Phe446Tyr））存在新型复杂杂合突变。成熟 B 细胞（CD19+CD27+CD38dimIgD IgM-）缺失。大剂量甲基强的松龙（MP）和环磷酰胺（CTX）治疗可迅速缓解患者的症状。

结论

我们描述了一例可能由 PRKDC 突变引起的婴儿免疫缺陷伴全身性红斑狼疮样综合征病例，大剂量 MP 和 CTX 治疗成功。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/7148ade3fa1e/12969_2023_840_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/d308bbaf2c4f/12969_2023_840_Figa_HTML.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/d8ff0714057e/12969_2023_840_Fige_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/09115ac7855a/12969_2023_840_Figf_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/7148ade3fa1e/12969_2023_840_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/d308bbaf2c4f/12969_2023_840_Figa_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/1baa90e55d34/12969_2023_840_Figb_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/e9710f29bba8/12969_2023_840_Figc_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/f0e1148e4fe2/12969_2023_840_Figd_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/d8ff0714057e/12969_2023_840_Fige_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/09115ac7855a/12969_2023_840_Figf_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3031/10424403/7148ade3fa1e/12969_2023_840_Fig1_HTML.jpg

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Risk factors for mortality of diffuse alveolar hemorrhage in systemic lupus erythematosus: a systematic review and meta-analysis.系统性红斑狼疮弥漫性肺泡出血病死率的危险因素：系统评价和荟萃分析。
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Utilization of extracorporeal life support for diffuse alveolar damage and diffuse alveolar hemorrhage: A systematic review.体外生命支持在弥漫性肺泡损伤和弥漫性肺泡出血中的应用：系统评价。
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Systemic lupus erythematosus and diffuse alveolar hemorrhage, etiology and novel treatment strategies.系统性红斑狼疮和弥漫性肺泡出血的病因及新的治疗策略。
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