|
Epstein-Barr Virus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Epstein-Barr virus (EBV) infection was significantly more common in SAP-deficient 10/13 (76.9%) than XIAP-deficient 2/7 (28.6%) patients, as was hypogammaglobulinemia (10/13 (76.9%) vs. 1/7 (14.3%)).
|
31754776 |
2020 |
|
Epstein-Barr Virus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Pathogenic hemizygous variants in the SH2D1A gene cause X-linked lymphoproliferative (XLP) syndrome, a rare primary immunodeficiency usually associated with fatal Epstein-Barr virus infection.
|
30990878 |
2019 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
This gene has been reported to encode the adaptor molecule signaling lymphocytic activation molecule‑associated protein XLP1 is generally triggered by the Epstein‑Barr virus (EBV) infection.
|
25572984 |
2015 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
The unique bimodal intracellular SAP protein expression indicated the presence of some residual SAP-positive T cells that are able to respond to persistent Epstein-Barr virus infection and could explain the relatively mild clinical phenotype of this patient.
|
25044636 |
2014 |
|
Epstein-Barr Virus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with the primary immunodeficiency X-linked lymphoproliferative disease (XLP), which is caused by mutations in SH2D1A, are highly susceptible to Epstein-Barr virus (EBV) infection.
|
22493517 |
2012 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
The signaling lymphocyte activation molecule (SLAM)-associated protein, SAP, was first identified as the protein affected in most cases of X-linked lymphoproliferative (XLP) syndrome, a rare genetic disorder characterized by abnormal responses to Epstein-Barr virus infection, lymphoproliferative syndromes, and dysgammaglobulinemia.
|
21219180 |
2011 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
Although previous studies have identified defects in lymphocytes from XLP patients, the unique role of SAP in controlling EBV infection remains unresolved.
|
22069374 |
2011 |
|
Epstein-Barr Virus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The SAP (SH2D1A) gene is located on the X chromosome and is responsible for X-linked lymphoproliferative disease, characterized by higher susceptibility to Epstein-Barr virus infection.
|
20049647 |
2010 |
|
Epstein-Barr Virus Infections
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Our results with BL derived cell lines suggest that the fate of the precursor cells is decided by the expression of the proapototic SAP and EBV infection.
|
20080127 |
2010 |
|
Epstein-Barr Virus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The fatal immune dysregulation that sometimes follows EBV infection in boys has been linked to mutations in two X chromosome-encoded genes, SLAM-associated protein (SAP) and X-linked inhibitor of apoptosis (XIAP).
|
19425169 |
2009 |
|
Epstein-Barr Virus Infections
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Thus, loss of SAP function can lead to dysregulated immune responses characterized by the uncontrolled expansion and activation of T cells independent of EBV infection.
|
19621458 |
2009 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
Despite this, there is little understanding of how SAP deficiency causes lymphocytosis following EBV infection.
|
19759517 |
2009 |
|
Epstein-Barr Virus Infections
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Therefore, the down-regulation of the SAP gene by ATF5 may represent a common mechanism for the pathogenesis of HPS that is associated with either Epstein-Barr virus infection or immune disorders with dysregulated T-cell activation.
|
18832568 |
2008 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
Although HLH is genetically distinct from XLP, our data suggest that both diseases share a common signal pathway, through either the mutation or LMP1-mediated suppression of the SAP gene, leading to overt T-cell activation and enhanced Th1 cytokine secretion in response to EBV infection.
|
16002423 |
2005 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
This rare disorder of immunedysregulation presents typically after Epstein-Barr virus infection and results from defects in the SAP (SLAM associated protein) gene.
|
15320910 |
2004 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
Deficiency of SAP (SLAM (signaling lymphocyte activation molecule)-associated protein) protein is associated with a severe immunodeficiency, the X-linked lymphoproliferative disease (XLP) characterized by an inappropriate immune reaction against Epstein-Barr virus infection often resulting in a fatal clinical course.
|
12766168 |
2003 |
|
Epstein-Barr Virus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel mutation in the signaling lymphocytic activation molecule-associated protein.
|
14583885 |
2003 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
SH2D1A, the X-linked lymphoproliferative disease (XLP) gene, encodes a cytoplasmic protein that plays an essential role in controlling Epstein-Barr virus infection.
|
12709835 |
2003 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
The SH2 domain containing SH2D1A protein has been characterized in relation to the X-linked lymphoproliferative disease (XLP), a primary immunodeficiency that leads to serious clinical conditions after Epstein-Barr virus (EBV) infection.
|
12115526 |
2002 |
|
Epstein-Barr Virus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Analysis of SH2D1A mutations in patients with severe Epstein-Barr virus infections, Burkitt's lymphoma, and Hodgkin's lymphoma.
|
12224001 |
2002 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
Moreover, preliminary results of virus infections of a mouse in which the SAP/SH2D1A gene has been disrupted suggest that EBV infection is not per se critical for the development of XLP phenotypes.
|
11244050 |
2001 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
Thus, SH2D1A can affect multiple intracellular signaling pathways that are potentially important in the normal effective host response to Epstein-Barr virus infection.
|
10852966 |
2000 |
|
Epstein-Barr Virus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.
|
11049992 |
2000 |
|
Epstein-Barr Virus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
SAP is deficient in patients affected by X-linked lymphoproliferative disorder (XLP), which is triggered following EBV infection.
|
10658976 |
2000 |
|
Epstein-Barr Virus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The gene that encodes a protein termed SAP or SH2D1A is either deleted or mutated in XLP patients, resulting in uncontrolled B- and T-cell proliferation upon EBV infection.
|
10970095 |
2000 |