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.

中文翻译：

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欧洲免疫缺陷学会先天性心境患者管理指南。


先天性心境障碍是一种限制生命的疾病，由罕见的先天性免疫缺陷引起胸腺器官发生受损或胸腺基质细胞发育和功能异常。心腺功能失常的婴儿具有 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 淋巴细胞缺乏症，易患严重感染和自身免疫。患者表现出不同程度的综合征特征。扩大新生儿重症联合免疫缺陷和 T 淋巴细胞减少症筛查的可及性，以及广泛的基因检测，包括下一代测序技术，越来越有助于及时识别。推荐的一线治疗方法是同种异体胸腺移植，这是欧洲和美国可用的一种特殊手术。在感染和炎症并发症发生之前进行早期诊断和胸腺移植，对无胸腺患者预后最好。这些指南代表欧洲免疫缺陷学会 （European Society for Immunodeficiencies） 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的评价;他们提供侧重于先天性心境的诊断、调查、风险分层和管理的临床实践建议，以改善患者的预后。