Abstract Number: PB1233
Meeting: ISTH 2020 Congress
Background: Common variable immunodeficiency (CVID) is the most common primary immune deficiency diseases(PID). Nearly 20-25% of its first manifestation is autoimmunity. Some patients are characterized by cytopenia represented by immune thrombocytopenia (ITP) ,which is easily confused with primary ITP. Most ITP caused by CVID usually developed into chronic/refractory ITP(C/RITP) with poor prognosis. Early diagnosis is essential in adequate management of the disease.
Aims: We aim to detect children CVID combined with ITP by high-throughput, next-generation sequencing (NGS) from children with apparent C/RITP and analyze their characteristics, providing evidence for the early identification of the disease.
Methods: Though performing NGS for CVID related genetic variation on C/RITP admitted to Beijing Children´s Hospital from April 2016 to May 2019. We scored and analyzed the clinical and laboratory data of CVID with ITP confirmed by their phenotype, genetic rule and serum immunoglobulin (Ig) level.
Results: Among 176 children C/RITP, 19 (10.8%) were diagnosed with CVID related genetic variation, 8 (4.5%) were confirmed with CVID, 5 with TNFRSF13B, 1 with LRBA, 1 with NFKB2 and 1 with CARD11 mutation. Six boys and 2 girls with a median onset age of 5.00 (0.37-11.32) years were included. Seven presented with mild bleeding and 1showed profound bleeding. Repeated infection existed in all. Two were associated with hypersensitivity. Positive indexes of autoimmunity were noted in 5. Five (62.5%) had a definite positive family history. The median of serum IgA concentration was 0.3875 (0.078-0.792) g/L, IgG concentration was 6.14 (4.1-13.4) g/L and IgM concentration was 0.522 (0.216-0.667) g/L.
Conclusions: In this study, diagnosis of CVID with ITP is likely to be delayed due to the onset manifestation as ITP, atypical immunodeficiency symptoms, intravenous immunoglobulin (IVIG) intervention and absence of family history. NGS performing and thorough review of the medical history may beneficial to identification and management of CVID.
To cite this abstract in AMA style:Ma J, Fu L, Zhang J, Gu H, Liu H, Chen Z, Wu R. Single Center Analysis of the Phenotype of Children Immune Thrombocytopenia with Mutation Related to Common Variable Immunodeficiency [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/single-center-analysis-of-the-phenotype-of-children-immune-thrombocytopenia-with-mutation-related-to-common-variable-immunodeficiency/. Accessed November 29, 2023.
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