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资源简介：
Identify pathological variants in a cohort of patients with suspected primary immune dysregulation and deficiency.
应用场景：
创建时间：
2025-08-17
相关数据集
Atlas, TGP, pathogenic variants
Allele age estimated using GEVA on data from the 1000 Genomes Project (TGP), for variants annotated by PolyPhen-2 and SIFT (information available through Ensembl), across all autosomes.
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Experience with Subgam, a Subcutaneously Administered Human Normal Immunoglobulin (ClinicalTrials.gov - NCT02247141)
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Table_2_Immune Dysregulation in Pediatric Common Variable Immunodeficiency: Implications for the Diagnostic Approach.DOCX
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Data_Sheet_1_Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency.docx
Primary immunodeficiency (PID) with immune dysregulation may present with early onset gastrointestinal autoimmune disorders. When gastrointestinal autoimmunity is associated with multiple extraintesti
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Description of variants with RFD ≥ 10%.
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