SH2 domain-containing protein 1A
The SH2D1A gene encodes a protein involved in signal transduction among lymphocytes. X-linked recessive lymphoproliferative syndrome 1 is caused by mutations in that gene.
Genetests:
Related Diseases:
References:
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Nichols KE et al. (2005) Regulation of NKT cell development by SAP, the protein defective in XLP.
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Morra M et al. (2001) Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.
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3. |
Latour S et al. (2001) Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product.
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4. |
Sumazaki R et al. (2001) SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses.
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5. |
Hwang PM et al. (2002) A "three-pronged" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome.
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6. |
Li C et al. (2003) Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors.
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7. |
Crotty S et al. (2003) SAP is required for generating long-term humoral immunity.
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8. |
Chan B et al. (2003) SAP couples Fyn to SLAM immune receptors.
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9. |
Parolini O et al. (2003) Differential methylation pattern of the X-linked lymphoproliferative (XLP) disease gene SH2D1A correlates with the cell lineage-specific transcription.
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10. |
Sanzone S et al. (2003) SLAM-associated protein deficiency causes imbalanced early signal transduction and blocks downstream activation in T cells from X-linked lymphoproliferative disease patients.
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11. |
Czar MJ et al. (2001) Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP.
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12. |
Pasquier B et al. (2005) Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product.
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13. |
Morra M et al. (2005) Defective B cell responses in the absence of SH2D1A.
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14. |
Aoukaty A et al. (2005) Role for glycogen synthase kinase-3 in NK cell cytotoxicity and X-linked lymphoproliferative disease.
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15. |
Veillette A et al. (2008) SAP expression in T cells, not in B cells, is required for humoral immunity.
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16. |
Deenick EK et al. (2008) Immunology: Helpful T cells are sticky.
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17. |
Qi H et al. (2008) SAP-controlled T-B cell interactions underlie germinal centre formation.
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18. |
Nagy N et al. (2009) The proapoptotic function of SAP provides a clue to the clinical picture of X-linked lymphoproliferative disease.
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19. |
Snow AL et al. (2009) Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency.
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20. |
Recher M et al. (2013) Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.
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21. |
Yin L et al. (1999) SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.
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22. |
Shapiro MB et al. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.
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23. |
None (1982) The CBA/N mouse strain: an experimental model illustrating the influence of the X-chromosome on immunity.
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24. |
Thorley-Lawson DA et al. (1982) Epstein-Barr virus superinduces a new human B cell differentiation antigen (B-LAST 1) expressed on transformed lymphoblasts.
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25. |
Coffey AJ et al. (1998) Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
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26. |
Sayos J et al. (1998) The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.
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27. |
Sumegi J et al. () The molecular genetics of X-linked lymphoproliferative (Duncan's) disease.
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28. |
Tangye SG et al. (1999) Cutting edge: human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP.
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29. |
Poy F et al. (1999) Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition.
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30. |
Brandau O et al. (1999) Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
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31. |
Ross MT et al. (2005) The DNA sequence of the human X chromosome.
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32. |
Strahm B et al. (2000) Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection.
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33. |
Lappalainen I et al. (2000) Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
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34. |
Sylla BS et al. (2000) The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B.
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35. |
Parolini S et al. (2000) 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.
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36. |
Tangye SG et al. (2000) Functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome.
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37. |
Benoit L et al. (2000) Defective NK cell activation in X-linked lymphoproliferative disease.
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38. |
Sumegi J et al. (2000) 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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39. |
Arico M et al. (2001) Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.
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40. |
Wu C et al. (2001) SAP controls T cell responses to virus and terminal differentiation of TH2 cells.
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Update: Aug. 14, 2020