Abstract Number: PB1236
Meeting: ISTH 2020 Congress
Background: Chronic refractory autoimmune thrombocytopenia(C/RITP) comprises complex and heterogeneous pathogenesis.
Aims: We sought to the incidence, clinical and genetic characteristics of chronic/refractory immune thrombocytopenia children with a high frequency of potentially damaging variants in immune genes.
Methods: Whole Exon Sequencing (WES) was performed by Next Generation Sequencing (NGS) to summarize and analyze the clinical characteristics, and genetic characteristics of cases with a high frequency of potentially damaging variants in immune genes that could not be clearly diagnosed as hereditary immune thrombocytopenia by NGS.
Results: In a national, retrospective analysis of 252 patients with chronic refractory autoimmune thrombocytopenia initiated in 2016, 51 children with a high frequency of potentially damaging variants in immune genes(M+ group) and 103 children with no genetic abnormalities (M- group). Compared with M- group, children in M+ group were more likely to show skin and mucous membrane bleeding, and the proportion of bleeding degree was higher than that in the M- group . Meanwhile, we found that M+ group with a higher incidence of abnormal immunological indexes, more abnormal immunological indexes . And the peripheral T lymphocytes and B lymphocytes in the children with a high frequency of potentially damaging variants in immune genes were significantly increased . Nine patients(5.84%) had probable pathogenic variants in 1 of 4 genes known to be involved in primary immunodeficiencies (TNFRSF13B, CARD11, CBLand RAG2), whereas 42 patients (27.27%) carried uncertain mutations in 23 genes in the context of autoimmune disease. Lastly, no genetic abnormalities were found in the remaining 102 patients (66.88%, the M- group). The M+ group displayed more severe bleeding than the M- group, with more abnormal immunological indexes.
Conclusions: Wide-ranging genetic screening should be offered in chronic refractory immune thrombocytopenia patients associated with long history, easy recurrence, severe bleeding, positive indicators of autoimmune diseases and abnormal immune function tests.
To cite this abstract in AMA style:Zhao S. Chronic Refractory Immune Thrombocytopenia is Associated with a High Frequency of Potentially Damaging Variants in Immune Genes [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/chronic-refractory-immune-thrombocytopenia-is-associated-with-a-high-frequency-of-potentially-damaging-variants-in-immune-genes/. Accessed May 15, 2021.
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