SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 160; N. variants: 8
Disease: Common Variable Immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.070 AlteredExpression disease BEFREE Finally, reduced intracellular SAP expression in iNKT cells and other lymphocytes in the blood from CVID patients was observed. 29083052 2017
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.070 Biomarker disease BEFREE Seven known genetic defects, including Bruton tyrosine kinase (Btk), CD4OL, and signaling lymphocyte activation molecule-associated protein (SAP) (all X-linked) and inducible costimulator molecule (ICOS), transmembrane activator and calcium-modulator and cytophilin ligand interactor (TACI), B-cell-activating factor of the tumor necrosis family receptor (BAFFR), and CD19 (all autosomal recessive), were found in patients with the phenotype of common variable immunodeficiency (CVID). 18051214 2007
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.070 Biomarker disease BEFREE These results demonstrate that SAP defects are rarely observed in CVID patients. 15320910 2004
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.070 GeneticVariation disease BEFREE The results support the notion that the possibility of a SH2D1A gene mutation should be considered in hypogammaglobulinemic male patients before a diagnosis of CVID is made. 12894850 2003
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.070 GeneticVariation disease BEFREE Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency. 12447665 2002
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.070 GeneticVariation disease BEFREE Here, 2 unrelated families in whom male members were affected by CVID were examined for a defect in the XLP gene. 11520777 2001
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.070 Biomarker disease BEFREE We therefore suggest that XLP should be suspected in certain boys previously diagnosed as having CVID and recommend that patients are investigated both by genetic analysis of SH2D1A and by expression of SAP protein. 10898506 2000