Primary antibody deficiencies (PADs) are characterized by hypogammaglobulinemia and impaired B-cell differentiation. Patients with common variable immunodeficiency (CVID) present severe reductions in at least 2 serum immunoglobulins and impaired terminal differentiation of B cells. Most patients with CVID do not appear to present monogenic defects. Activated phosphoinositide 3-kinase delta syndrome (APDS), caused by gain-of-function mutations in the PIK3CD gene (p110δ), can present in patients with a CVID-like phenotype. Memory B-cell differentiation requires the orchestrated activation of numerous intracellular signaling pathways, which promote transcriptional programs required for long-term B-cell survival. The aim of this study was to develop a flow cytometry assay to trace the PI3K-Akt-mTOR pathway, a critical component of B-cell homeostasis, and analyze its status in PADs.

中文翻译：

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通过监测常见可变免疫缺陷和活化磷酸肌醇 3-激酶 δ 综合征患者的 PI3K-Akt 轴评估 B 细胞细胞内信号传导

原发性抗体缺陷 (PAD) 的特征是低丙种球蛋白血症和 B 细胞分化受损。患有常见变异型免疫缺陷 (CVID) 的患者至少有 2 种血清免疫球蛋白严重减少，并且 B 细胞的终末分化受损。大多数 CVID 患者似乎不存在单基因缺陷。由 PIK3CD 基因 (p110δ) 的功能获得性突变引起的活化磷酸肌醇 3-激酶 δ 综合征 (APDS) 可出现在具有 CVID 样表型的患者中。记忆 B 细胞分化需要协调激活许多细胞内信号通路，从而促进 B 细胞长期存活所需的转录程序。本研究的目的是开发一种流式细胞术来追踪 PI3K-Akt-mTOR 通路，这是 B 细胞稳态的关键组成部分，