Common variable immune deficiency (CVID) is one of the most common congenital immune defects encountered in clinical practice. The condition occurs equally in males and females, and most commonly in the 20- to 40-year-old age group. The diagnosis is made by documenting reduced serum concentrations of immunoglobulin G (IgG), IgA, and usually IgM, together with loss of protective antibodies. The genetics of this syndrome are complex and are still being unraveled, but the hallmarks for most patients, as with other immune defects, include acute and chronic infections of the sinopulmonary tract. However, other noninfectious autoimmune or inflammatory conditions may also occur in CVID, and indeed these may be the first and only sign that a significant immune defect is present. These manifestations include episodes of immune thrombocytopenia, autoimmune hemolytic anemia, or neutropenia, in addition to splenomegaly, generalized or worrisome lymphadenopathy, and malignancy, especially lymphoma. These issues commonly bring the patient to the attention of hematologists for both evaluation and treatment. This article discusses 3 cases in which patients with CVID had some of these presenting issues and what hematology input was required.

中文翻译：

---

常见变异免疫缺陷：案例研究


常见变异免疫缺陷（CVID）是临床实践中最常见的先天性免疫缺陷之一。这种情况在男性和女性中发生率相同，最常见于 20 至 40 岁年龄段。通过记录免疫球蛋白 G (IgG)、IgA（通常是 IgM）的血清浓度降低以及保护性抗体的丧失来做出诊断。这种综合征的遗传学很复杂，目前仍在解开，但大多数患者的特征与其他免疫缺陷一样，包括急性和慢性鼻窦感染。然而，其他非感染性自身免疫或炎症性疾病也可能发生在 CVID 中，事实上，这些可能是存在显着免疫缺陷的第一个也是唯一的迹象。这些表现包括免疫性血小板减少症、自身免疫性溶血性贫血或中性粒细胞减少症，此外还有脾肿大、全身或令人担忧的淋巴结肿大以及恶性肿瘤，尤其是淋巴瘤。这些问题通常会引起血液科医生的注意，以进行评估和治疗。本文讨论了 3 个病例，其中 CVID 患者存在一些上述问题以及需要哪些血液学输入。