SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 160; N. variants: 8
Disease: Severe Sepsis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis 		0.010 AlteredExpression disease BEFREE Thus, genetic analysis alone cannot confirm a diagnosis of XLP We have developed a SAP expression assay that can be used as a diagnostic indicator of XLP We show that SAP is constitutively expressed in normal individuals, in patients with severe sepsis and in patients with other primary immunodeficiencies. 10898506 2000