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rs111033623
|
|
|
0.710 |
GeneticVariation |
BEFREE |
HSCT is the only curative therapy for XLP and this therapy should be urgently considered.What is Known:• SAP and XIAP deficiencies share common clinical feature, HLH, whereas they also have their own specific manifestations.• IBD affects 25-30% of XIAP-deficient patients, which has been reported in other countries especially in European country and Japan.What is New:• This is the largest patient cohort study of XLP in China.• We firstly summarized the clinical features and outcomes of Chinese XIAP-deficient patients and found only 1 in 22 patients developed IBD and diet background may contribute to it; Asian SAP-deficient patients carrying SH2D1A R55X mutation were more prone to HLH.
|
31754776 |
2020 |
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rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis.
|
27209435 |
2016 |
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rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.
|
24985396 |
2014 |
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rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.
|
22493517 |
2012 |
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rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Reduced-intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: an important step forward.
|
21707584 |
2011 |
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rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature.
|
15908972 |
2005 |
|
rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.
|
15661030 |
2005 |
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rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease--report of three cases.
|
15359110 |
2004 |
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rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
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 |
|
rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Analysis of SH2D1A mutations in patients with severe Epstein-Barr virus infections, Burkitt's lymphoma, and Hodgkin's lymphoma.
|
12224001 |
2002 |
|
rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family.
|
11414741 |
2001 |
|
rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses.
|
11493483 |
2001 |
|
rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.
|
11159547 |
2001 |
|
rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
|
10694488 |
2000 |
|
rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells.
|
10934222 |
2000 |
|
rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.
|
10598819 |
1999 |
|
rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
|
9771704 |
1998 |
|
rs111033623
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome.
|
9811875 |
1998 |