氟西汀成功治疗了一名因 19 号染色体节段性单亲断裂而导致 CD79a 缺失的患者的颅内肠道病毒 E18 感染。

IF 7.2 2区 医学 Q1 IMMUNOLOGY
Lang Yu, Yishi Zhang, Wenhui Li, Jinxiao Mao, Yulin Li, Haoru Wang, Chenlin Li, Lu Yang, Wenli He, Yanjun Jia, Wenjing Tang, Lina Zhou, Zhiyong Zhang, Yuntao Jia, Xuemei Tang, Xiaodong Zhao, Yunfei An
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引用次数: 0

摘要

前 BCR 复合物在 B 细胞生成过程中起着至关重要的作用,它的成功表达标志着 B 细胞从原 B 细胞分化为前 B 细胞。CD79a 和 CD79b 突变分别编码 Igα 和 Igβ,已被确定为常染色体隐性遗传性阿加球蛋白血症(ARA)的病因。在此,我们介绍了一例同基因 CD79a 突变的患者,该患者表现出反复呼吸道感染、腹泻、生长发育迟缓、独特的面部畸形和小头畸形,以及包括脊髓系带、骶管囊肿和慢性肠道病毒 E18 脑膜炎在内的神经系统症状。患者骨髓中的早期 B 细胞发育被完全阻断,导致外周循环成熟 B 细胞缺失。全外显子组测序显示,患者的 19 号染色体上存在一个约 19.20Mb 的杂合性缺失(LOH),其中含有 CD79a。这是首例由节段性单亲二倍体(UPD)引起的同源 CD79a 基因突变病例。这项研究的另一项重要成果是采用静脉注射免疫球蛋白(IVIG)和氟西汀联合疗法有效治疗长期慢性肠道病毒性脑膜炎。这种方法提供了令人信服的证据,证明氟西汀可以治疗肠道病毒性脑膜炎,尤其是免疫力低下的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.

Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.

The pre BCR complex plays a crucial role in B cell production, and its successful expression marks the B cell differentiation from the pro-B to pre-B. The CD79a and CD79b mutations, encoding Igα and Igβ respectively, have been identified as the cause of autosomal recessive agammaglobulinemia (ARA). Here, we present a case of a patient with a homozygous CD79a mutation, exhibiting recurrent respiratory infections, diarrhea, growth and development delay, unique facial abnormalities and microcephaly, as well as neurological symptoms including tethered spinal cord, sacral canal cyst, and chronic enteroviral E18 meningitis. Complete blockade of the early B cell development in the bone marrow of the patient results in the absence of peripheral circulating mature B cells. Whole exome sequencing revealed a Loss of Heterozygosity (LOH) of approximately 19.20Mb containing CD79a on chromosome 19 in the patient. This is the first case of a homozygous CD79a mutation caused by segmental uniparental diploid (UPD). Another key outcome of this study is the effective management of long-term chronic enteroviral meningitis using a combination of intravenous immunoglobulin (IVIG) and fluoxetine. This approach offers compelling evidence of fluoxetine's utility in treating enteroviral meningitis, particularly in immunocompromised patients.

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来源期刊
CiteScore
12.20
自引率
9.90%
发文量
218
审稿时长
2 months
期刊介绍: The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.
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