Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

SH2-Domain-Protein 1A

Das SH2D1A-Gen kodiert eine Protein welches an verschiedenen Stellen bei der Signaltransduktion in Lymphozyten verantwortlich ist. Mutationen verursachen das x-chromosomal rezessive lymphoproliferatives Syndrom 1.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

X-chromosomales lymphoproliferatives Syndrom 1
SH2D1A

Referenzen:

1.

Ross MT et al. (2005) The DNA sequence of the human X chromosome.

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2.

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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3.

Sumegi J et al. () The molecular genetics of X-linked lymphoproliferative (Duncan's) disease.

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4.

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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5.

Nichols KE et al. (2005) Regulation of NKT cell development by SAP, the protein defective in XLP.

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6.

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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7.

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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8.

None (1982) The CBA/N mouse strain: an experimental model illustrating the influence of the X-chromosome on immunity.

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9.

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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10.

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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11.

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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12.

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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13.

Yin L et al. (1999) SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.

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14.

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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15.

Lappalainen I et al. (2000) Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.

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16.

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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17.

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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18.

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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19.

Benoit L et al. (2000) Defective NK cell activation in X-linked lymphoproliferative disease.

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20.

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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21.

Arico M et al. (2001) Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.

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22.

Wu C et al. (2001) SAP controls T cell responses to virus and terminal differentiation of TH2 cells.

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23.

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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24.

Morra M et al. (2001) Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.

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25.

Latour S et al. (2001) Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product.

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26.

Sumazaki R et al. (2001) SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses.

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27.

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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28.

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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29.

Crotty S et al. (2003) SAP is required for generating long-term humoral immunity.

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30.

Chan B et al. (2003) SAP couples Fyn to SLAM immune receptors.

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31.

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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32.

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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33.

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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34.

Morra M et al. (2005) Defective B cell responses in the absence of SH2D1A.

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35.

Aoukaty A et al. (2005) Role for glycogen synthase kinase-3 in NK cell cytotoxicity and X-linked lymphoproliferative disease.

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36.

Veillette A et al. (2008) SAP expression in T cells, not in B cells, is required for humoral immunity.

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37.

Deenick EK et al. (2008) Immunology: Helpful T cells are sticky.

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38.

Qi H et al. (2008) SAP-controlled T-B cell interactions underlie germinal centre formation.

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39.

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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40.

Recher M et al. (2013) Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

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Update: 8. Juni 2020