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

作者全名：Yu, Lang; Zhang, Yishi; Li, Wenhui; Mao, Jinxiao; Li, Yulin; Wang, Haoru; Li, Chenlin; Yang, Lu; He, Wenli; Jia, Yanjun; Tang, Wenjing; Zhou, Lina; Zhang, Zhiyong; Jia, Yuntao; Tang, Xuemei; Zhao, Xiaodong; An, Yunfei

作者地址：[Yu, Lang; Zhang, Yishi; Li, Wenhui; Li, Yulin; Wang, Haoru; Li, Chenlin; Yang, Lu; He, Wenli; Jia, Yanjun; Tang, Wenjing; Zhou, Lina; Zhang, Zhiyong; Jia, Yuntao; Tang, Xuemei; Zhao, Xiaodong; An, Yunfei] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Key Lab Child Dev & Disorders, Dept Neurosurg,Childrens Hosp,Minist Educ, Chongqing, Peoples R China; [Yu, Lang; Zhang, Yishi; Li, Wenhui; Li, Yulin; Li, Chenlin; Yang, Lu; He, Wenli; Jia, Yanjun; Tang, Wenjing; Zhou, Lina; Zhang, Zhiyong; Tang, Xuemei; Zhao, Xiaodong; An, Yunfei] Chongqing Med Univ, Chongqing Key Lab Child Infect & Immun, Childrens Hosp, Chongqing, Peoples R China; [Li, Wenhui] Chongqing Med Univ, Mol Med Diag & Testing Ctr, Chongqing, Peoples R China; [Wang, Haoru] Chongqing Med Univ, Minist Educ, Key Lab Child Dev & Disorders, Childrens Hosp, Chongqing, Peoples R China; [Wang, Haoru] Chongqing Med Univ, Dept Radiol, Childrens Hosp, Chongqing, Peoples R China; [Tang, Wenjing; Zhang, Zhiyong; Tang, Xuemei; Zhao, Xiaodong; An, Yunfei] Childrens Hosp Chongqing Med Univ, Dept Rheumatol & Immunol, Childrens Hosp, 136 Zhongshan 2nd Rd, Chongqing 400014, Peoples R China; [Mao, Jinxiao; Jia, Yuntao] Chongqing Med Univ, Childrens Hosp, Dept Pharm, Chongqing, Peoples R China

通信作者：Zhao, XD; An, YF (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Key Lab Child Dev & Disorders, Dept Neurosurg,Childrens Hosp,Minist Educ, Chongqing, Peoples R China.; Zhao, XD; An, YF (通讯作者)，Chongqing Med Univ, Chongqing Key Lab Child Infect & Immun, Childrens Hosp, Chongqing, Peoples R China.; Zhao, XD; An, YF (通讯作者)，Childrens Hosp Chongqing Med Univ, Dept Rheumatol & Immunol, Childrens Hosp, 136 Zhongshan 2nd Rd, Chongqing 400014, Peoples R China.

来源：JOURNAL OF CLINICAL IMMUNOLOGY

ESI学科分类：IMMUNOLOGY

WOS号：WOS:001233959100001

JCR分区：Q1

影响因子：7.2

年份：2024

卷号：44

期号：6

开始页：　

结束页：　

文献类型：Article

关键词：Agammaglobulinemia; CD79a mutation; Uniparental disomy; Fluoxetine; Enteroviral meningitis

摘要：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 Ig alpha and Ig beta 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.

基金机构：Chongqing medical scientific research project (Joint project of Chongqing Health Commission and Science and Technology Bureau)

基金资助正文：We thank the patient and his family for participating in this study.