ATM is often dubbed the master regulator of the DNA double stranded break (DSB) response. Since proper induction and repair of DNA DSBs forms the core of immunological diversity, it is surprising that patients with ataxia telangiectasia generally have a mild immunodeficiency in contrast to other DSB repair syndromes. In this review, we address this discrepancy by delving into the functions of ATM in DSB repair and cell cycle control and translate these to adaptive immunity. We conclude that ATM, despite its myriad functions, is not an absolute requirement for acquiring sufficient levels of immunological diversity to prevent severe viral and opportunistic infections. There is, however, a more clinically pronounced antibody deficiency in ataxia telangiectasia due to disturbed class switch recombination.

ATM通常被称为DNA双链断裂（DSB）反应的主调节剂。由于DNA DSB的正确诱导和修复形成了免疫学多样性的核心，因此令人惊讶的是，共济失调毛细血管扩张症患者与其他DSB修复综合征相比，通常具有轻度的免疫缺陷。在这篇综述中，我们通过研究ATM在DSB修复和细胞周期控制中的功能并将其转化为适应性免疫来解决这一差异。我们得出的结论是，尽管ATM功能繁多，但并不是获得足够水平的免疫多样性以预防严重病毒和机会感染的绝对必要条件。然而，由于分类开关重组受到干扰，共济失调毛细血管扩张症中存在更加临床上明显的抗体缺乏症。