Primary immune deficiency is caused by genetic mutations that result in immune dysfunction and subsequent susceptibility to infection. Over the last decade there has been a dramatic increase in the number of genetically defined causes of immune deficiency including those which affect B‐cell function. This has not only identified critical nonredundant pathways that control the generation of protective antibody responses but also revealed that immunodeficiency and autoimmunity are often closely linked. Here we explore the molecular and cellular mechanisms of these rare monogenic conditions that disrupt antibody production, which also have implications for understanding the causes of more common polygenic immune dysfunction.

中文翻译：

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抗体应答缺陷的分子和细胞机制

原发性免疫缺陷是由导致免疫功能障碍和随后的感染易感性的基因突变引起的。在过去的十年中，遗传上定义的免疫缺陷原因（包括那些影响B细胞功能的原因）数量急剧增加。这不仅确定了控制保护性抗体应答产生的关键非冗余途径，而且还揭示了免疫缺陷和自身免疫通常紧密相连。在这里，我们探讨了这些罕见的破坏抗体产生的单基因条件的分子和细胞机制，这对于理解更常见的多基因免疫功能障碍的原因也具有重要意义。