Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy; Department of Experimental Medicine Sapienza University of Rome, Rome, Italy.
Department of Internal Medicine and Infectious Diseases, Regional Reference Centre for Primary Immune Deficencies, Azienda Ospedaliera Universitaria Policlinico Umberto I, Rome, Italy.
Acta Biomed. 2021 Nov 29;92(S7):e2021520. doi: 10.23750/abm.v92iS7.12406.
Primary immunodeficiency disorders (PIDs) are rare inherited monogenic disorders of the immune system, characterized by an increased risk of infection, immune dysregulation and malignancies. To date, more than 420 PIDs have been identified. The recent introduction of high throughput sequencing technologies has led to identifying the molecular basis of the underlying aberrant immune pathway, and candidate targets to develop precision treatment, aimed at modifying the clinical course of the disease. In PID, targeted therapies are especially effective to manage immune dysregulation and autoimmunity, also reducing the incidence of side effects compared to conventional treatments, sparing the use of steroids and immunosuppressive drugs. Moreover, in the last years, the approach of conventional treatments such as immunoglobulin replacement therapies has evolved and the indication has expanded to new diseases, leading to individualized strategies to both improve infection control and quality of life. Similarly, the new advent of gene therapy in selected PIDs has introduced the benefit to correct the immunological defect, reducing at the same time the complications related to the hematopoietic stem cell transplantation. Here, we illustrate the most recent findings on tailored treatments for PIDs.
原发性免疫缺陷病(PIDs)是一种罕见的遗传性单基因免疫疾病,其特征是感染、免疫失调和恶性肿瘤的风险增加。迄今为止,已经发现了超过 420 种 PIDs。最近高通量测序技术的引入,使得确定潜在免疫途径的分子基础和候选靶点成为可能,从而开发精准治疗方法,旨在改善疾病的临床进程。在 PID 中,靶向治疗对于管理免疫失调和自身免疫特别有效,与传统治疗相比,还减少了副作用的发生,避免了类固醇和免疫抑制药物的使用。此外,近年来,免疫球蛋白替代疗法等传统治疗方法的治疗方法也在不断发展,适应症也在不断扩大到新的疾病,从而制定了个体化的策略,既改善了感染控制,又提高了生活质量。同样,在选定的 PIDs 中,基因治疗的新出现也带来了纠正免疫缺陷的好处,同时减少了与造血干细胞移植相关的并发症。在这里,我们阐述了针对 PIDs 的定制治疗的最新发现。