Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
Blood. 2012 Mar 15;119(11):2552-5. doi: 10.1182/blood-2011-08-371021. Epub 2011 Nov 30.
Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 original stored Guthrie cards from patients diagnosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodeficiency, immunoglobulin A deficiency, or X-linked hyper-IgM syndrome. Simultaneous measurement of TREC and KREC copy numbers in Guthrie card samples readily identified patients with SCID, XLA, ataxia-telangiectasia and Nijmegen-breakage-syndrome and thus facilitates effective newborn screening for severe immunodeficiency syndromes characterized by the absence of T or B cells.
严重联合免疫缺陷（SCID）和 X 连锁无丙种球蛋白血症（XLA）是免疫功能的先天性缺陷，需要及时诊断和治疗，以预防危及生命的感染。这些疾病中缺乏功能性 T 或 B 淋巴细胞可作为诊断标准，并可应用于新生儿筛查。本研究开发并验证了一种使用单个 Guthrie 卡打孔进行 T 细胞受体切除环（TRECs）和 κ 缺失重组切除环（KRECs）定量的三重 PCR 方法，该方法应用于 2560 张匿名新生儿筛查卡和 49 张原始储存的 Guthrie 卡，这些卡来自诊断为 SCID、XLA、共济失调毛细血管扩张症、范可尼贫血、普通可变免疫缺陷、免疫球蛋白 A 缺乏症或 X 连锁高 IgM 综合征的患者。在 Guthrie 卡样本中同时测量 TREC 和 KREC 拷贝数可轻松识别出 SCID、XLA、共济失调毛细血管扩张症和范可尼贫血患者，从而有助于有效地对以 T 或 B 细胞缺失为特征的严重免疫缺陷综合征进行新生儿筛查。
