Abstract：
Common variable immunodeficiency (CVID) is a primary B cell immunodeficiency disorder. Symptoms do not develop immediately after birth, and patients are often diagnosed in childhood and adulthood. These patients often develop autoimmune diseases and malignant tumors. We herein report a 50-year-old woman with severe hypogammaglobulinemia and recurrent respiratory tract infections who was diagnosed with CVID. Target sequencing showed a TNFRSF13B heterozygous frameshift variant. The patient had many comorbidities, probably caused by a CVID-induced immune imbalance. Physicians who treat adult patients are often unaware of CVID. CVID should be recognized as a differential diagnosis in hypogammaglobulinemia and recurrent infections.
摘要：
普通可变免疫缺陷(CVID)是一种原发性B细胞免疫缺陷性疾病。出生后症状不会立即发展，患者通常在童年和成年期被诊断。这些患者经常发展自身免疫性疾病和恶性肿瘤。我们在此报告了一名50岁的女性，患有严重的低丙种球蛋白血症和反复呼吸道感染，并被诊断为CVID。靶测序显示TNFRSF13B杂合移码变体。病人有很多合并症,可能是由CVID诱导的免疫失衡引起的。治疗成年患者的医生通常不知道CVID。CVID应被视为低球蛋白血症和复发性感染的鉴别诊断。
