Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, 141 86 Stockholm, Sweden.
Curr Opin Immunol. 2013 Oct;25(5):629-38. doi: 10.1016/j.coi.2013.06.003. Epub 2013 Sep 5.
Antibody deficiencies are the most prevalent forms of primary immunodeficiencies (PIDs). Several disease-causing mutations have been identified to date, but still, the genetic background of most patients remains elusive. During the last 2 years, next generation sequencing has revealed the genetic basis for a number of these disorders. Having as a reference the latest International Union of Immunological Societies classification on PIDs, we present 9 novel genetic defects/mechanisms that are associated with antibody deficiency, affecting either early or late B-cell development. The role of dysregulated autophagy in antibody deficiency is highlighted. The latest advance in this field provides new insights to our understanding of the regulation of antibody production in human B cells.
抗体缺陷是最常见的原发性免疫缺陷（PID）形式。迄今为止，已经发现了几种致病突变，但大多数患者的遗传背景仍然难以捉摸。在过去的 2 年中，下一代测序技术揭示了许多此类疾病的遗传基础。我们参考最新的国际免疫学联合会 PID 分类，介绍了 9 种与抗体缺陷相关的新的遗传缺陷/机制，这些缺陷/机制影响早期或晚期 B 细胞发育。失调的自噬在抗体缺陷中的作用也得到了强调。该领域的最新进展为我们理解人类 B 细胞中抗体产生的调节提供了新的见解。
