X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).
about
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patientsA "three-pronged" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndromeStructural 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 diseaseInactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndromeThe X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa BSevere infectious diseases of childhood as monogenic inborn errors of immunityHistorical backgroundDual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptorsA spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnessesDifferential expression of SAP and EAT-2-binding leukocyte cell-surface molecules CD84, CD150 (SLAM), CD229 (Ly9) and CD244 (2B4)The adaptor protein SAP directly associates with CD3ζ chain and regulates T cell receptor signaling.Genetics of neoplasia--impact of ecogenetics on oncogenesis. A review.Immunological disorders and malignancies in five young brothersAcute Epstein-Barr virus infection presenting as severe gastroenteritis without infectious mononucleosis-like manifestations.Fulminant course of infectious mononucleosis with virus-associated hemophagocytic syndrome.Severe chronic active EBV infection in an adult patient: case report.Prenatal diagnosis of X linked lymphoproliferative disease using multiplex polymerase chain reaction.Signaling activities of gammaherpesvirus membrane proteinsHerpesviruses.Immunogenetics: changing the face of immunodeficiency.Defective B cell responses in the absence of SH2D1AThe clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.The power and the promise of restimulation-induced cell death in human immune diseases.Infectious mononucleosis and mononucleosis syndromes.Severe neutropenia in infectious mononucleosisUsing flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiencyGeneration of specific cytotoxic T cells with a fragment of the Epstein-Barr virus-encoded p63/latent membrane protein.Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseasesLinkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneityFrom Burkitt's lymphoma to chronic active Epstein-Barr virus (EBV) infection: an expanding spectrum of EBV-associated diseases.Perforin-mediated target-cell death and immune homeostasis.Mapping the X-linked lymphoproliferative syndromeX-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective.High-resolution landmark framework for the sequence-ready mapping of Xq23-q26.1.Immune deficiency as a risk factor in Epstein-Barr virus-induced malignant diseases.Molecular and immunological basis of X-linked lymphoproliferative disease.Deciphering the role of Epstein-Barr virus in the pathogenesis of T and NK cell lymphoproliferationsX linked lymphoproliferative disease in a United Kingdom family
P2860
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P2860
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).
description
1975 nî lūn-bûn
@nan
1975年の論文
@ja
1975年学术文章
@wuu
1975年学术文章
@zh-cn
1975年学术文章
@zh-hans
1975年学术文章
@zh-my
1975年学术文章
@zh-sg
1975年學術文章
@yue
1975年學術文章
@zh
1975年學術文章
@zh-hant
name
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).
@en
X-linked recessive progressive combined variable immunodeficiency
@nl
type
label
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).
@en
X-linked recessive progressive combined variable immunodeficiency
@nl
prefLabel
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).
@en
X-linked recessive progressive combined variable immunodeficiency
@nl
P2093
P1433
P1476
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).
@en
P2093
P304
P356
10.1016/S0140-6736(75)92004-8
P407
P577
1975-04-01T00:00:00Z