Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease

Blood

Volumn 96, Issue 9, 2000, Pages 3118-3125

  Sumegi, J ^a   Huang, D ^a   Lanyi, A ^a   Davis, J D ^a   Seemayer, T A ^a   Maeda, A ^a   Klein, G ^a   Seri, M ^a   Wakiguchi, H ^a   Purtilo, D T ^a   Gross, T G ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EPSTEIN BARR VIRUS; GENE DELETION; GENE MUTATION; HEMOPHAGOCYTIC SYNDROME; HUMAN; HUMAN CELL; LYMPHOPROLIFERATIVE DISEASE; MULTIGENE FAMILY; OUTCOMES RESEARCH; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SIGNAL TRANSDUCTION; VIRUS INFECTION; VIRUS TRANSCRIPTION;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CARRIER PROTEINS; CHROMOSOME MAPPING; EPSTEIN-BARR VIRUS INFECTIONS; EXONS; FEMALE; GENETIC MARKERS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; LYMPHOPROLIFERATIVE DISORDERS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREDICTIVE VALUE OF TESTS; PROGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SRC HOMOLOGY DOMAINS; X CHROMOSOME;

EID: 0034331249     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)
2. X-linked lymphoproliferative disease: Twenty-five years after the discovery
3. Manifestations of X-linked lymphoproliferative disease (XLP) without evidence of Epstein-Barr virus (EBV) infection
4. Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D 1A gene, as are patients with X-linked lymphoproliferative disease
5. Mapping the X-linked lymphoproliferative syndrome
6. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
7. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
8. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome
9. SH2 and SH3 domains: Elements that control interactions of cytoplasmic signaling proteins
10. A novel receptor involved in T-cell activation
11. Cutting edge: Human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP
12. Persistently high Epstein-Barr virus (EBV) loads in peripheral blood lymphocytes from patients with chronic active EBV infection
13. Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37
14. A new candidate region for the positional cloning of the XLP
15. Binding of the Src SH2 domain to phosphopeptides is determined by residues in both the SH2 domain and the phosphopeptides
16. Recognition of a high-affinity phosphotyrosyl peptide by the Src homology-2 domain of p56lck
17. Single point mutations in the SH2 domain impair the transforming potential of vav and fail to activate proto-vav
18. Structure of an SH2 domain of the p85 alpha subunit of phosphatidylinositol-3-OH kinase
19. Genetic analysis of a phosphatidylinositol 3-kinase SH2 domain reveals determinants of specificity
20. Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition
21. Modifier genes in humans: Strategies for identification