A great disturbance in the force: IL-2 receptor defects disrupt immune homeostasis.
A great disturbance in the force: IL-2 receptor defects disrupt immune homeostasis.
复制标题
力量的严重干扰：IL-2受体缺陷破坏了免疫稳态。
DOI：
10.1097/mop.0000000000001181
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发表时间：
2022-12-01
影响因子：
3.6
通讯作者：
Hsieh, Elena W. Y.
中科院分区：
文献类型：
--
作者：
Hernandez, Joseph D.;Hsieh, Elena W. Y.
关键词：
本综述强调了白细胞介素 2 受体 (IL-2R) 亚基缺陷导致的先天性免疫缺陷 (IEI) 如何导致儿童出现多种感染和炎症表现，而不仅仅是与 IL-2Rγ 相关的典型 X 连锁严重联合免疫缺陷 (X-SCID)。新生儿筛查 (NBS) 已减少了出现严重感染的典型 SCID 的诊断。相反，婴儿通常在出生后几天表现健康时被诊断出来。尽管早期诊断改善了 X-SCID 的临床结果，但 NBS 未检测到的非典型 SCID 或其他 IEI 可能会出现更有限的感染表现和/或严重的免疫失调。预防/控制感染并减少炎症并发症的早期管理对于确定性治疗的最佳结果非常重要。造血干细胞移植 (HSCT) 可治愈 IL-2Rα、IL-2Rβ 和 IL-2Rγ 缺陷，但基因治疗可能会为 X-SCID 产生类似的结果。 IL-2R 亚基的缺陷表现出感染性和炎症表型，应引起临床医生对 IEI 的关注。免疫表型分析可能支持诊断的怀疑，但最终基因研究将证实诊断并提供家庭咨询。感染和炎症并发症的处理将决定基因治疗或 HSCT 的成功。
This review highlights how inborn errors of immunity (IEI) due to interleukin-2 receptor (IL-2R) subunit defects may result in children presenting with a wide variety of infectious and inflammatory presentations beyond typical X-linked severe combined immune deficiency (X-SCID) associated with IL-2Rγ. Newborn screening (NBS) has made diagnosis of typical SCID presenting with severe infections less common. Instead, infants are typically diagnosed in the first days of life when they appear healthy. Although earlier diagnosis has improved clinical outcomes for X-SCID, atypical SCID or other IEI not detected on NBS may present with more limited infectious presentations and/or profound immune dysregulation. Early management to prevent/control infections and reduce inflammatory complications is important for optimal outcomes of definitive therapies. Hematopoietic stem cell transplant (HSCT) is curative for IL-2Rα, IL-2Rβ, and IL-2Rγ defects, but gene therapy may yield comparable results for X-SCID. Defects in IL-2R subunits present with infectious and inflammatory phenotypes that should raise clinician’s concern for IEI. Immunophenotyping may support the suspicion for diagnosis, but ultimately genetic studies will confirm the diagnosis and enable family counseling. Management of infectious and inflammatory complications will determine the success of gene therapy or HSCT.
影响因子：
9.1
作者：
Buckley, Rebecca H.;Win, Chan M.;Moser, Barry K.;Parrott, Roberta E.;Sajaroff, Elisa;Sarzotti-Kelsoe, Marcella
通讯作者：
Sarzotti-Kelsoe, Marcella