Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.
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A "three-pronged" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndromeThe X-linked lymphoproliferative disease gene product SAP associates with PAK-interacting exchange factor and participates in T cell activationStructural basis for the interaction of the free SH2 domain EAT-2 with SLAM receptors in hematopoietic cellsSelective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative diseaseResponses to Microbial Challenges by SLAMF ReceptorsX-linked tumor suppressors: perplexing inheritance, a unique therapeutic opportunity.Identification of genes involved in resistance to interferon-alpha in cutaneous T-cell lymphoma.Emergence of anti-red blood cell antibodies triggers red cell phagocytosis by activated macrophages in a rabbit model of Epstein-Barr virus-associated hemophagocytic syndrome.Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH.Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.BIRC4 Mutation: An Important Rare Cause of UveitisAltered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAPComparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis.Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.The proapoptotic function of SAP provides a clue to the clinical picture of X-linked lymphoproliferative diseaseInnate immune responses against Epstein Barr virus infectionPhenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP).Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection.SLAM family receptors and the SLAM-associated protein (SAP) modulate T cell functions.Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasmsHuman Genetic Determinants of Viral Diseases.Human immunity against EBV-lessons from the clinic.Lymphoma and cerebral vasculitis in association with X-linked lymphoproliferative disease.Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency.Novel X-Linked Inhibitor of Apoptosis Mutation in Very Early-Onset Inflammatory Bowel Disease Child Successfully Treated with HLA-Haploidentical Hemapoietic Stem Cells Transplant after Removal of αβ+ T and B Cells.First report of an SH2D1A mutation associated with X-linked lymphoproliferative disease in Turkey.X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective.Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report.Tolerogenic Transcriptional Signatures of Steady-State and Pathogen-Induced Dendritic Cells.Inherited Immunodeficiencies With High Predisposition to Epstein–Barr Virus-Driven Lymphoproliferative Diseases.EBV Infection in XLP1 Manifested Solely by Behavioral Aggression and Effective Treatment Using Rituximab.Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1
P2860
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P2860
Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.
description
2000 nî lūn-bûn
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2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh-hant
name
Correlation of mutations of th ...... d lymphoproliferative disease.
@en
Correlation of mutations of th ...... d lymphoproliferative disease.
@nl
type
label
Correlation of mutations of th ...... d lymphoproliferative disease.
@en
Correlation of mutations of th ...... d lymphoproliferative disease.
@nl
prefLabel
Correlation of mutations of th ...... d lymphoproliferative disease.
@en
Correlation of mutations of th ...... d lymphoproliferative disease.
@nl
P2093
P1433
P1476
Correlation of mutations of th ...... ed lymphoproliferative disease
@en
P2093
D T Purtilo
H Wakiguchi
T A Seemayer
P304
P407
P577
2000-11-01T00:00:00Z