Kreins Alexandra Y, Dhalla Fatima, Flinn Aisling M, Howley Evey, Ekwall Olov, Villa Anna, Staal Frank J T, Anderson Graham, Gennery Andrew R, Holländer Georg A, Davies E Graham
Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Infection Immunity and Inflammation Research and Teaching Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Department of Paediatrics and Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, United Kingdom; Department of Clinical Immunology, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
J Allergy Clin Immunol. 2024 Dec;154(6):1391-1408. doi: 10.1016/j.jaci.2024.07.031. Epub 2024 Sep 18.
Congenital athymia is a life-limiting disorder due to rare inborn errors of immunity causing impaired thymus organogenesis or abnormal thymic stromal cell development and function. Athymic infants have a T-lymphocyte-negative, B-lymphocyte-positive, natural killer cell-positive immunophenotype with profound T-lymphocyte deficiency and are susceptible to severe infections and autoimmunity. Patients variably display syndromic features. Expanding access to newborn screening for severe combined immunodeficiency and T lymphocytopenia and broad genetic testing, including next-generation sequencing technologies, increasingly facilitate their timely identification. The recommended first-line treatment is allogeneic thymus transplantation, which is a specialized procedure available in Europe and the United States. Outcomes for athymic patients are best with early diagnosis and thymus transplantation before the development of infectious and inflammatory complications. These guidelines on behalf of the European Society for Immunodeficiencies provide a comprehensive review for clinicians who manage patients with inborn thymic stromal cell defects; they offer clinical practice recommendations focused on the diagnosis, investigation, risk stratification, and management of congenital athymia with the aim of improving patient outcomes.
先天性无胸腺症是一种危及生命的疾病，由罕见的先天性免疫缺陷导致胸腺器官发生受损或胸腺基质细胞发育及功能异常。无胸腺症婴儿具有T淋巴细胞阴性、B淋巴细胞阳性、自然杀伤细胞阳性的免疫表型，伴有严重的T淋巴细胞缺乏，易发生严重感染和自身免疫。患者表现出不同的综合征特征。扩大对重症联合免疫缺陷和T淋巴细胞减少症的新生儿筛查以及广泛的基因检测，包括新一代测序技术，越来越有助于及时识别这些疾病。推荐的一线治疗方法是同种异体胸腺移植，这是欧洲和美国可采用的一种特殊治疗手段。对于无胸腺症患者，早期诊断并在感染和炎症并发症出现之前进行胸腺移植，预后最佳。这些代表欧洲免疫缺陷学会的指南为管理先天性胸腺基质细胞缺陷患者的临床医生提供了全面综述；它们提供了侧重于先天性无胸腺症的诊断、检查、风险分层和管理的临床实践建议，旨在改善患者预后。
