无丙种球蛋白血症的研究进展

Research progress in agammaglobulinemia

B细胞免疫缺陷是由于B细胞发育停滞或者发育途径改变导致的,这会使免疫球蛋白缺失或减少。无丙种球蛋白血症目前已知的有X-连锁无丙种球蛋白血症、常染色体显性遗传丙种球蛋白血症和常染色体隐性遗传丙种球蛋白血症,其中X-连锁无丙种球蛋白血症最为常见,约占病例的85%。早期识别和尽快诊断这些疾病对于改善患者的整体健康情况以及预防后遗症和并发症是至关重要的。由于这些基因突变的表型与基因型之间缺乏相关性,使得诊断和结果预测相当困难。诊断技术的创新有助于促进无丙种球蛋白血症的早期辨别并进行及时治疗。本文对已报告的无丙种球蛋白血症的病因、发病机制、诊断和治疗等进行综述,旨在提升学界对这一疾病的重视程度,并促进实施专门的治疗方案。

B-cell immunodeficiency is caused by B-cell dysplasia or altered developmental pathways,which can lead to the absence or reduction of immunoglobulins.Agammaglobulinemia is currently known to include X-linked agammaglobulinemia,autosomal dominant gammaglobulinemia,and autosomal recessive gammaglobulinemia,of which X-linked agammaglobulinemia is the most common,accounting for about 85%of cases.Early recognition and diagnosis of these diseases is essential to improve the overall health of patients and prevent sequelae and complications.The lack of correlation between phenotypes and genotypes of these gene mutations makes predicting and diagnosing outcomes quite difficult.Innovations in diagnostic techniques help facilitate early identification and prompt treatment of agammaglobulinemia.In this review,I summarize the reported etiology,pathogenesis,diagnosis,and treatment of agammaglobulinemia,hoping to draw attention to agammaglobulinemia and the importance of early neonatal screening.