The BAFF-receptor (BAFFR) is a member of the TNF-receptor family. It is expressed only by B cells and binds BAFF as single ligand, which activates key signaling pathways regulating essential cellular functions, including survival, protein synthesis, and metabolic fitness. In humans, BAFFR deficiency interrupts B cell development at the transition from immature to mature B cells and causes B lymphopenia, hypogammaglobulinemia, and impaired humoral immune responses. Polymorphisms in TNFRSF13C gene affecting BAFFR oligomerization and signaling have been described in patients with immunodeficiency, autoimmunity and B cell lymphomas. Despite a uniform expression pattern of BAFFR in peripheral mature B cells, depletion of BAFF with neutralizing antibodies in patients with systemic lupus erythematosus does not affect the survival of switched memory B cells. These findings imply a distinct dependency of mature B cell subsets on BAFF/BAFFR interaction and highlight the contribution of BAFFR-derived signals in peripheral B cell development and homeostasis.

中文翻译：

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BAFF受体多态性和人类缺陷。

BAFF 受体 (BAFFR) 是 TNF 受体家族的成员。它仅由 B 细胞表达并作为单一配体结合 BAFF，从而激活调节基本细胞功能的关键信号通路，包括生存、蛋白质合成和代谢适应性。在人类中，BAFFR 缺乏会在从未成熟 B 细胞过渡到成熟 B 细胞时中断 B 细胞发育，并导致 B 淋巴细胞减少、低丙种球蛋白血症和体液免疫反应受损。已经在免疫缺陷、自身免疫和 B 细胞淋巴瘤患者中描述了影响 BAFFR 寡聚化和信号传导的 TNFRSF13C 基因的多态性。尽管外周成熟 B 细胞中 BAFFR 的表达模式一致，在系统性红斑狼疮患者中用中和抗体消耗 BAFF 不会影响转换记忆 B 细胞的存活。这些发现暗示了成熟 B 细胞亚群对 BAFF/BAFFR 相互作用的明显依赖性，并强调了 BAFFR 衍生信号在外周 B 细胞发育和稳态中的贡献。