TACI promotes T-cell independent antibody responses and plasma cell differentiation and counteracts BAFF driven B-cell activation. Mutations in TNFRSF13B (encoding TACI) are associated with common variable immunodeficiency (CVID) but are also found in 1-2% of the general population. Although not diseases causing, certain TNFRSF13B mutations predispose CVID patients to autoimmunity and lymphoproliferation. Recently, studies of TACI-deficient humans and murine models revealed novel aspects of TACI, especially its crosstalk with the TLR pathways, differential expression of TACI isoforms, and its role in the generation of autoreactive B-cells. Vice versa, these studies are instrumental for a better understanding of TACI deficiency in humans and suggest that gene dosage, mutation type, and additional clinical or laboratory abnormalities influence the relevance of TNFRSF13B variants in individual CVID patients. TACI is embedded in a complex and well-balanced system, which is vulnerable to genetic and possibly also environmental hits.

中文翻译：

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TACI 缺乏 - 一个失去平衡的复杂系统。

TACI 促进 T 细胞非依赖性抗体反应和浆细胞分化并抵消 BAFF 驱动的 B 细胞活化。TNFRSF13B（编码 TACI）的突变与常见可变免疫缺陷（CVID）相关，但也存在于 1-2% 的普通人群中。虽然不会引起疾病，但某些 TNFRSF13B 突变会使 CVID 患者易患自身免疫和淋巴组织增生。最近，对缺乏 TACI 的人类和小鼠模型的研究揭示了 TACI 的新方面，尤其是它与 TLR 通路的串扰、TACI 同种型的差异表达，以及它在自身反应性 B 细胞生成中的作用。反之亦然，这些研究有助于更好地了解人类 TACI 缺乏症，并表明基因剂量、突变类型、其他临床或实验室异常影响个体 CVID 患者中 TNFRSF13B 变体的相关性。TACI 嵌入在一个复杂且平衡良好的系统中，该系统易受遗传影响，也可能受到环境影响。