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患儿携带突变:病例报告及文献复习

Unusual and coinfection in a child with a mutation: A case report and literature review.

机构信息

Department of Respiratory Diseases, Shenzhen Children's Hospital Affiliated to Shantou University Medical College, Shenzhen, China.

Department of Research and Development, Shenzhen Nuclear Gene Technology Co., Ltd., Shenzhen, China.

出版信息

Front Immunol. 2023 Feb 20;14:1103184. doi: 10.3389/fimmu.2023.1103184. eCollection 2023.

Abstract

and are the common opportunistic pathogens in immunodeficient patients. There have been no reports of and coinfection in immunodeficient children. Signal transducer and activator of transcription 1 () is a key transcription factor in immune responses. mutations are predominately associated with chronic mucocutaneous candidiasis and invasive mycosis. We report a 1-year-2-month-old boy diagnosed with severe laryngitis and pneumonia caused by and coinfection, which was confirmed by smear, culture, polymerase chain reaction and metagenome next-generation sequencing of bronchoalveolar lavage fluid. He has a known mutation at amino acid 274 in the coiled-coil domain of according to whole exome sequencing. Based on the pathogen results, itraconazole and trimethoprim-sulfamethoxazole were administered. This patient's condition improved, and he was discharged after two weeks of targeted therapy. In the one-year follow-up, the boy remained symptom-free without recurrence.

摘要

和 是免疫缺陷患者中常见的机会性病原体。目前尚未有免疫缺陷儿童同时感染 和 的报道。信号转导和转录激活因子 1()是免疫反应中的关键转录因子。 突变主要与慢性黏膜皮肤念珠菌病和侵袭性真菌感染相关。我们报告了一例 1 岁 2 个月大的男孩,因 和 合并感染导致严重喉炎和肺炎,通过支气管肺泡灌洗液的涂片、培养、聚合酶链反应和宏基因组下一代测序得到确诊。根据全外显子组测序,该男孩在 卷曲螺旋结构域的氨基酸 274 处存在已知的 突变。根据病原体检测结果,给予伊曲康唑和复方磺胺甲噁唑治疗。该患者的病情得到改善,经过两周的靶向治疗后出院。在一年的随访中,该男孩无症状且未复发。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5ac/9986280/c7c771f43c93/fimmu-14-1103184-g001.jpg

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