Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes
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 an...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2021-11-01
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| Series: | Clinical and Applied Thrombosis/Hemostasis |
| Online Access: | https://doi.org/10.1177/10760296211059813 |
| _version_ | 1818838127539650560 |
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| author | Shasha Zhao MD Jingyao Ma MD Xiaojing Zhu MM Jialu Zhang MM Runhui Wu MD |
| author_facet | Shasha Zhao MD Jingyao Ma MD Xiaojing Zhu MM Jialu Zhang MM Runhui Wu MD |
| author_sort | Shasha Zhao MD |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-19T03:33:27Z |
| format | Article |
| id | doaj.art-d5b39ffe18fb48daba192331653088be |
| institution | Directory Open Access Journal |
| issn | 1938-2723 |
| language | English |
| last_indexed | 2024-12-19T03:33:27Z |
| publishDate | 2021-11-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Clinical and Applied Thrombosis/Hemostasis |
| spelling | doaj.art-d5b39ffe18fb48daba192331653088be2022-12-21T20:37:27ZengSAGE PublishingClinical and Applied Thrombosis/Hemostasis1938-27232021-11-012710.1177/10760296211059813Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune GenesShasha Zhao MDJingyao Ma MDXiaojing Zhu MMJialu Zhang MMRunhui Wu MDThe 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.https://doi.org/10.1177/10760296211059813 |
| spellingShingle | Shasha Zhao MD Jingyao Ma MD Xiaojing Zhu MM Jialu Zhang MM Runhui Wu MD Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes Clinical and Applied Thrombosis/Hemostasis |
| title | Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes |
| title_full | Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes |
| title_fullStr | Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes |
| title_full_unstemmed | Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes |
| title_short | Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes |
| title_sort | chronic refractory immune thrombocytopenia is associated with variants in immune genes |
| url | https://doi.org/10.1177/10760296211059813 |
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