National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
J Clin Immunol. 2024 May 28;44(6):137. doi: 10.1007/s10875-024-01740-7.
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.
pre BCR 复合物在 B 细胞生成中起着至关重要的作用,其成功表达标志着 B 细胞从 pro-B 向 pre-B 的分化。CD79a 和 CD79b 突变分别编码 Igα 和 Igβ,已被确定为常染色体隐性无丙种球蛋白血症(ARA)的病因。在这里,我们介绍了一例纯合 CD79a 突变患者的病例,该患者表现为反复呼吸道感染、腹泻、生长发育迟缓、独特的面部异常和小头畸形,以及神经症状,包括脊髓栓系、骶管囊肿和慢性肠道病毒 E18 脑膜炎。患者骨髓中早期 B 细胞发育完全受阻,导致外周循环成熟 B 细胞缺失。全外显子组测序显示,患者 19 号染色体上的 CD79a 缺失约 19.2Mb,存在杂合性丢失(LOH)。这是首例由片段性单亲二倍体(UPD)引起的纯合 CD79a 突变。本研究的另一个重要结果是使用静脉注射免疫球蛋白(IVIG)和氟西汀联合治疗长期慢性肠道病毒脑膜炎。这一方法为氟西汀在治疗肠道病毒脑膜炎,特别是在免疫功能低下的患者中的应用提供了有力证据。