Agammaglobulinemia is a type of primary antibody deficiencies, characterized by severe reduction in serum level of all types of immunoglobulins level and absence of B cells in the peripheral blood. X-linked and various autosomal recessive/dominant mutations have been identified underlying the pathogenesis of this disorder. Affected patients present a broad range of clinical manifestations, including respiratory infections, gastrointestinal complications, Enterovirus infections, autoimmunity, and malignancies. This disease can be controlled by different therapeutic strategies. In this review, we describe different aspects of agammaglobulinemia such as epidemiology, pathogenesis, clinical phenotype, diagnosis, management, and prognosis of congenital agammaglobulinemia.

无丙种球蛋白血症是一种一级抗体缺乏症，其特征是血清中各类免疫球蛋白水平严重下降，外周血中缺乏B细胞。X 连锁和各种常染色体隐性/显性突变已被确定为该疾病发病机制的基础。受影响的患者表现出广泛的临床表现，包括呼吸道感染、胃肠道并发症、肠道病毒感染、自身免疫和恶性肿瘤。这种疾病可以通过不同的治疗策略来控制。在这篇综述中，我们描述了先天性无丙种球蛋白血症的不同方面，例如先天性无丙种球蛋白血症的流行病学、发病机制、临床表型、诊断、治疗和预后。