School of Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA.
Mol Genet Genomic Med. 2020 Apr;8(4):e1172. doi: 10.1002/mgg3.1172. Epub 2020 Feb 17.
We report the first case of a family with co-occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X-linked agammaglobulinemia (XLA), a primary immunodeficiency disorder (PIDD) that features marked reduction in circulating B lymphocytes and serum immunoglobulins.
Through utilization of a multiplexed biomarker peptide quantification method known as the immuno-SRM assay, we were able to simultaneously and independently identify which family members are affected with WD and which are affected with XLA using dried blood spots (DBS).
Being able to delineate multiple diagnoses using proteolytic analysis from a single DBS provides support for implementation of this methodology for clinical diagnostic use as well as large-scale population screening, such as newborn screening (NBS). This could allow for early identification and treatment of affected individuals with WD or XLA, which have been shown to reduce morbidity and decrease mortality in these two populations.
我们报告了首例同时患有威尔逊病（WD）和 X 连锁无丙种球蛋白血症（XLA）的家族病例。WD 是一种常染色体隐性遗传性铜代谢紊乱疾病，而 XLA 是一种原发性免疫缺陷病（PIDD），其特征是循环 B 淋巴细胞和血清免疫球蛋白显著减少。
通过使用一种称为免疫靶向重元素标记定量法（immuno-SRM assay）的多重生物标志物肽定量方法，我们能够使用干血斑（DBS）同时且独立地识别出哪些家庭成员患有 WD，哪些家庭成员患有 XLA。
能够使用单一 DBS 的蛋白水解分析来描述多种诊断，为该方法在临床诊断应用以及大规模人群筛查（如新生儿筛查（NBS））中的实施提供了支持。这可以使 WD 或 XLA 患者得到早期识别和治疗，已经证明这两种疾病可以降低这两种人群的发病率和死亡率。
