Deng Sihan, Rao Shijia, Wang Alun R, Shi Wei
Department of Dermatology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Department of Dermatology, The Second Xiangya Hospital, Central South University, Hunan Key Laboratory of Medical Epigenomics, Changsha, Hunan, China.
Front Genet. 2023 Mar 16;14:1115027. doi: 10.3389/fgene.2023.1115027. eCollection 2023.
Here, we report a case of rubella virus-induced granulomatous dermatitis in a young girl with immunodeficiency caused by gene mutations. The patient was a 6-year-old girl who presented with multiple erythematous plaques on the face and limbs. Biopsies of the lesions revealed tuberculoid necrotizing granulomas. No pathogens could be identified on extensive special stains, tissue cultures, or PCR-based microbiology assays. Metagenomic next-generation sequencing analysis revealed the rubella virus. Underlying atypical severe combined immunodeficiency was recognized based on the patient's history of repetitive infections since birth, low T-cell, B-cell, and NK cell counts, and abnormal immunoglobulins and complements. Whole-exome sequencing revealed the genetic abnormality of the atypical severe combined immunodeficiency (SCID), and compound heterozygous mutations of the gene were detected. This report highlights the diagnostic values of metagenomic next-generation sequencing in identifying rare pathogens causing cutaneous granulomas in patients with atypical SCID.
在此,我们报告一例风疹病毒引起的肉芽肿性皮炎病例,患者为一名因基因突变导致免疫缺陷的年轻女孩。该患者为一名6岁女孩,面部和四肢出现多处红斑斑块。病变活检显示结核样坏死性肉芽肿。在广泛的特殊染色、组织培养或基于PCR的微生物学检测中均未发现病原体。宏基因组下一代测序分析发现了风疹病毒。根据患者自出生以来反复感染的病史、低T细胞、B细胞和NK细胞计数以及异常的免疫球蛋白和补体,诊断为潜在的非典型严重联合免疫缺陷。全外显子测序揭示了非典型严重联合免疫缺陷(SCID)的基因异常,并检测到该基因的复合杂合突变。本报告强调了宏基因组下一代测序在识别非典型SCID患者中引起皮肤肉芽肿的罕见病原体方面的诊断价值。