Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes. (November 2021)

• Record Type: Journal Article
• Authors: Zhao, Shasha; Ma, Jingyao; Zhu, Xiaojing; Zhang, Jialu; Wu, Runhui
• Is Part Of: Clinical and applied thrombosis/hemostasis. Volume 27(2021)
• Publication Date: 2021-11
• Subjects: chronic refractory immune thrombocytopenia -- next-generation sequencing -- immune genes -- mutation; Hemostasis -- Periodicals; Thrombosis -- Periodicals; 616.13
• DOI: 10.1177/10760296211059813
• Languages: English
• ISSNs: 1076-0296

Abstract

The pathogenesis of chronic refractory immune thrombocytopenia (C/RITP) is mechanistically complex and considerably varies across patients. Few studies have focused on the genetic characteristics of C/RITP in children. The aim of this study was to analyze and summarize the clinical manifestations and genetic characteristics of C/RITP children with mutations in immune-related genes. In the study, 51 children with variants in immune-related genes (mutation group) and 103 children with no abnormal mutations (control group) were enrolled. Children in the mutation group showed severity of hemorrhage, a higher incidence of abnormal immunological indices, and an increased expression of SLE biomarkers. The number of peripheral T and B lymphocytes in the mutation group significantly increased. Nine patients (17.6%) had probable pathogenic variant genes associated with primary immunodeficiencies ( TNFRSF13B, CARD11, CBL, and RAG2 ), and 42 patients (82.4%) had variants of uncertain significance in 23 genes. C/RITP patients with variants in immune-related genes had more severe bleeding, abnormal immunological indices, and an increased expression of SLE biomarker. Next-generation sequenciong (NGS) might be a useful way to differentiate those patients from C/RITP.