Interruptions or alterations in the B cell development pathway can lead to primary B cell immunodeficiency with resultant absence or diminished immunoglobulin production. While the most common cause of congenital agammaglobulinemia is X-linked agammaglobulinemia (XLA), accounting for approximately 85% of cases, other genetic forms of agammaglobulinemia have been identified. Early recognition and diagnosis of these conditions are pivotal for improved outcomes and prevention of sequelae and complications. The diagnosis of XLA is often delayed, and can be missed if patient has a mild phenotype. The lack of correlation between phenotype and genotype in this condition makes management and predicting outcomes quite difficult. In contrast, while less common, autosomal recessive forms of agammaglobulinemia present at younger ages and with typically more severe clinical features resulting in an earlier diagnosis. Some diagnostic innovations, such as KREC level measurements and serum BCMA measurements, may aid in facilitating an earlier identification of agammaglobulinemia leading to prompt treatment. Earlier diagnosis may improve the overall health of patients with XLA.

B 细胞发育途径的中断或改变可导致原发性 B 细胞免疫缺陷，从而导致免疫球蛋白产生缺失或减少。虽然先天性无丙种球蛋白血症最常见的原因是 X 连锁无丙种球蛋白血症 (XLA)，约占病例的 85%，但已发现其他遗传形式的丙种球蛋白血症。早期识别和诊断这些病症对于改善结果和预防后遗症和并发症至关重要。XLA 的诊断经常被延误，如果患者的表型较轻，则可能被漏诊。在这种情况下，表型和基因型之间缺乏相关性，这使得管理和预测结果变得非常困难。相比之下，虽然不太常见，常染色体隐性遗传形式的无丙种球蛋白血症出现在较年轻的年龄，并且通常具有更严重的临床特征，从而导致更早的诊断。一些诊断创新，例如 KREC 水平测量和血清 BCMA 测量，可能有助于促进及早发现丙种球蛋白血症，从而及时治疗。早期诊断可能会改善 XLA 患者的整体健康状况。