Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137, Trieste, Italy.
University of Trieste, Strada di Fiume 447, 34149, Trieste, Italy.
Inflamm Res. 2019 Nov;68(11):901-904. doi: 10.1007/s00011-019-01277-1. Epub 2019 Aug 29.
Most of primary immunodeficiencies with hypogammaglobulinemia are associated with reduced memory B cells. T cell development may be interesting as well, but increased recent thymic emigrants are rarely reported in these patients. We report the case of a family (mother and her two sons) diagnosed with common variable immunodeficiency 10 due to a mutation in the NFKB2 gene. Laboratory findings showed that all three patients presented hypogammaglobulinemia, reduced memory B cells and elevated naïve T lymphocytes and recent thymic emigrants. This feature, in the absence of glucocorticoid deficiency, may suggest a primary thymic dysfunction. Interestingly, the mother presented the worst immune phenotype, as regards both antibody production and NK function, indicating that immune function may deteriorate in the course of time. We conclude that close monitoring of immune functions may widen the knowledge on the CVID10 and improve the patients' care.
大多数伴有低丙种球蛋白血症的原发性免疫缺陷症都与记忆 B 细胞减少有关。T 细胞的发育也可能很有趣，但这些患者中很少有报道称近期胸腺迁出细胞增加。我们报告了一个家庭（母亲和她的两个儿子）的病例，他们因 NFKB2 基因突变而被诊断为常见可变免疫缺陷症 10。实验室结果显示，所有三名患者均表现出低丙种球蛋白血症、记忆 B 细胞减少以及幼稚 T 淋巴细胞和近期胸腺迁出细胞升高。在没有糖皮质激素缺乏的情况下，这种特征可能提示原发性胸腺功能障碍。有趣的是，母亲表现出最严重的免疫表型，无论是抗体产生还是 NK 功能，这表明免疫功能可能随着时间的推移而恶化。我们得出结论，密切监测免疫功能可以扩大对 CVID10 的认识，并改善患者的护理。
