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. 2021 Jan-Dec:27:10760296211059813.
doi: 10.1177/10760296211059813.

Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes

Shasha Zhao  1 , Jingyao Ma  1 , Xiaojing Zhu  1 , Jialu Zhang  1 , Runhui Wu  1
Affiliations

Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes

Shasha Zhao et al. Clin Appl Thromb Hemost. 2021 Jan-Dec.

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.

Keywords: chronic refractory immune thrombocytopenia; immune genes; mutation; next-generation sequencing.

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Conflict of interest statement

Declaration of Conflicting Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Summary of inclusion patients.
Figure 2.
Figure 2.
The clinical characteristics of mutation group and control group patients.
See this image and copyright information in PMC

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