Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.470 | GeneticVariation | group | BEFREE | We report a patient carrying a SH2D1A mutation that, after treatment for lymphoma developed fatal central nervous system vasculitis. | 30138256 | 2019 | ||||
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0.470 | GeneticVariation | group | BEFREE | We propose SH2D1A mutational screening be considered in male patients with or without hypogammaglobulinemia who received rituximab treatment for lymphoma and did not recover immunoglobulin G in a year after B-depleting therapy. | 28267077 | 2017 | ||||
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0.470 | GeneticVariation | group | BEFREE | This is the first study to analyse the SH2D1A gene mutations in Iranian paediatric patients diagnosed with lymphoma. | 25982576 | 2016 | ||||
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0.470 | GeneticVariation | group | BEFREE | However, compared with XLP caused by SLAM-Associated Protein deficiency (SH2D1A mutation), XIAP deficiency was originally observed to be associated with a high incidence of hemophagocytic lymphohistiocytosis (HLH) and a lack of lymphoma, suggesting that classification of XIAP deficiency as a cause of XLP may not be entirely accurate. | 20489057 | 2010 | ||||
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0.470 | Biomarker | group | BEFREE | The manifestations of XLP generally occur following Epstein-Barr virus (EBV) infection and include fulminant mononucleosis, hypogammaglobulinemia and lymphoma. | 19621458 | 2009 | ||||
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0.470 | GeneticVariation | group | BEFREE | Patients with SH2D1A mutations displayed severe acute infectious mononucleosis with hyperimmunoglobulin M, hypogammaglobulinemia, and B-cell malignant lymphoma. | 11493483 | 2001 | ||||
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0.470 | Biomarker | group | BEFREE | X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. | 9771704 | 1998 | ||||
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0.470 | Biomarker | group | HPO | |||||||
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0.470 | Biomarker | group | GENOMICS_ENGLAND |