Fouriki Athina, Schnider Caroline, Theodoropoulou Katerina, Pachlopnik Jana, Hofer Michael, Candotti Fabio
Unité d'immunologie, allergologie et rhumatologie pédiatrique, Service de pédiatrie, Département femme-mère-enfant, CHUV, 1011 Lausanne.
Service d'immunologie pédiatrique, Hôpital universitaire pour enfants de Zurich, 8032 Zurich.
Rev Med Suisse. 2021 Jan 13;17(720-1):68-76.
Severe Combined Immunodeficiency (SCID) is one of the most severe forms of Primary Immunodeficiencies (PID) and leads to a potentially fatal course of disease without early and definitive treatment. Adequate management, from the first days of life, can improve the survival and outcome of patients with SCID. This can be achieved through newborn screening (NBS) based on the measurement of T-cell receptor excision circles (TREC). Already present in many countries, this NBS test was introduced in Switzerland in January 2019 on a pilot phase. In addition to the assessment of TRECs, the measurement of kappa recombinant excision circles (KREC) has also been introduced at the same time and allows the identification of severe forms of PID characterized by profound B cell lymphopenia.
重症联合免疫缺陷(SCID)是原发性免疫缺陷(PID)最严重的形式之一,若不及早进行明确治疗,会导致潜在的致命病程。从生命的最初几天开始进行充分管理,可改善SCID患者的生存率和预后。这可以通过基于T细胞受体切除环(TREC)测量的新生儿筛查(NBS)来实现。许多国家已经开展了这项NBS检测,瑞士于2019年1月在试点阶段引入了该检测。除了评估TREC外,同时还引入了kappa重组切除环(KREC)的测量,这有助于识别以严重B细胞淋巴细胞减少为特征的严重PID形式。