Activated PI3K-delta Syndrome (APDS), also called PI3K-delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI), is an autosomal dominant disorder caused by inherited or de novo gain-of-function mutations in one of two genes encoding subunits of the phosphoinositide-3-kinase delta (PI3Kδ) complex. This largely leukocyte-restricted protein complex regulates cell growth, activation, proliferation, and survival. Patients who harbor these mutations have early onset immunodeficiency with recurrent infections, lymphadenopathy, and autoimmunity. The most common infection susceptibilities are sinopulmonary (encapsulated bacteria) and herpesviruses. Multiple defects in both innate and adaptive immune function are responsible for this phenotype. Apart from anti-microbial prophylaxis and immunoglobulin replacement, patients are treated with a variety of immunomodulatory agents and some have needed hematopoietic stem cell transplants. Here, we highlight the spectrum of infections, immune defects, and therapy options in this inborn error of immunity.

激活的 PI3K-delta 综合征 (APDS)，也称为 PI3K-delta 激活突变导致 T 细胞衰老、淋巴结病和免疫缺陷 (PASLI)，是一种常染色体显性遗传疾病，由遗传或从头获得功能突变引起的两种疾病之一编码磷酸肌醇-3-激酶δ（PI3Kδ）复合物亚基的基因。这种主要受白细胞限制的蛋白质复合物调节细胞生长、活化、增殖和存活。携带这些突变的患者具有早发性免疫缺陷，伴有反复感染、淋巴结病和自身免疫。最常见的感染易感性是窦肺（包膜细菌）和疱疹病毒。先天性和适应性免疫功能的多种缺陷是造成这种表型的原因。除了抗微生物预防和免疫球蛋白替代，患者接受多种免疫调节剂治疗，有些患者需要进行造血干细胞移植。在这里，我们重点介绍了这种先天性免疫错误中的感染谱、免疫缺陷和治疗选择。