SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 160; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
0.060 Biomarker disease BEFREE Significantly reduced levels of switched memory B cells were observed in six SAP-deficient patients with persistent hypogammaglobulinemia. 31754776 2020
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
0.060 GeneticVariation disease 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
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
0.060 Biomarker disease BEFREE The manifestations of XLP generally occur following Epstein-Barr virus (EBV) infection and include fulminant mononucleosis, hypogammaglobulinemia and lymphoma. 19621458 2009
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
0.060 Biomarker disease BEFREE In addition, germinal center formation was extremely defective in chronically infected SAP- animals, and hypogammaglobulinemia was observed. 16788096 2006
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
0.060 Biomarker disease BEFREE The genetic lesion in XLP, SH2D1A, encodes the adaptor protein SAP (signaling lymphocytic activation molecule-associated [SLAM-associated] protein); however, the mechanism(s) by which mutations in SH2D1A causes hypogammaglobulinemia is unknown. 15761493 2005
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
0.060 Biomarker disease BEFREE The absence of NKT cells may contribute to the phenotypes of SAP deficiency, including abnormal antiviral and antitumor immunity and hypogammaglobulinemia. 15711562 2005