Department of Respiratory Medicine, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.
Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Japan, Kitakyushu, Japan.
Front Immunol. 2020 Sep 29;11:557521. doi: 10.3389/fimmu.2020.557521. eCollection 2020.
Hypogammaglobulinemia is a rare complication of gain-of-function (GOF) mutations. We report an adult patient diagnosed with hypogammaglobulinemia caused by B-cell depletion during the treatment of disseminated cryptococcosis. The patient carried the GOF mutation (c.820C>T, p.R274W). The flow cytometric analysis of his bone marrow revealed that B-cell differentiation was blocked in the stages between pre-B1b and pre-B2 cells. On the other hand, his brother who carried the same mutation displayed normal B-cell counts, thereby indicating that the unrecognized variants in same or other gene might be associated with abnormal B-cell differentiation in the patients. In conclusion, impaired B-cell differentiation in the bone marrow can cause hypogammaglobulinemia in patients with GOF mutations.
低丙种球蛋白血症是功能获得性（GOF）突变的罕见并发症。我们报告了一例成年患者，该患者在治疗播散性隐球菌病期间因 B 细胞耗竭而被诊断为低丙种球蛋白血症。该患者携带 GOF 突变（c.820C>T，p.R274W）。其骨髓的流式细胞分析显示，B 细胞分化在 pre-B1b 和 pre-B2 细胞之间的阶段受阻。另一方面，携带相同突变的他的哥哥显示出正常的 B 细胞计数，这表明相同或其他基因中的未识别变异可能与患者的异常 B 细胞分化有关。总之，骨髓中 B 细胞分化受损可导致 GOF 突变患者发生低丙种球蛋白血症。
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