Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

X-chromosomales lymphoproliferatives Syndrom 1

X-chromosomales lymphoproliferatives Syndrom 1 ist eine rezessive Erkrankung, die aus Mutationen im SH2D1A resultiert. Sie ist gekennzeichnet durch ein verminderte Immunabwehr insbesondere gegenüber EBV-Infektionen

Gliederung

Lymphoproliferatives Syndrom
Autoimmun-lymphoproliferatives Syndrom Typ 2
Lymphoproliferatives Syndrom 1
X-chromosomales lymphoproliferatives Syndrom 1
SH2D1A
X-chromosomales lymphoproliferatives Syndrom 2

Referenzen:

1.

Ma CS et al. (2005) Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells.

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2.

Rigaud S et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.

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3.

Purtilo DT et al. (1975) X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).

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4.

None (1976) Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome.

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5.

Purtilo DT et al. (1978) Epstein-Barr virus infections in the X-linked recessive lymphoproliferative syndrome.

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6.

Provisor AJ et al. (1975) Acquired agammaglobulinemia after a life-threatening illness with clinical and laboratory features of infectious mononucleosis in three related male children.

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7.

Purtilo DT et al. (1977) Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome.

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8.

Purtilo DT et al. (1977) Hematopathology and Pathogenesis of the X-linked recessive lymphoproliferative syndrome.

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9.

Skare J et al. (1992) First prenatal diagnosis of X-linked lymphoproliferative disease.

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10.

Mulley JC et al. (1992) X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male.

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11.

Purtilo DT et al. (1991) Methods of detection of new families with X-linked lymphoproliferative disease.

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12.

Sanger WG et al. (1990) Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)

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13.

Skare JC et al. (1989) Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq.

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14.

Skare JC et al. (1989) Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37.

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15.

Harris A et al. (1988) X-linked lymphoproliferative disease: a karyotype analysis.

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16.

Skare JC et al. (1987) Mapping the X-linked lymphoproliferative syndrome.

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17.

Harris A et al. (1988) X-linked lymphoproliferative disease: linkage studies using DNA probes.

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18.

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19.

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20.

Steinherz R et al. (1985) X-linked lymphoproliferative syndrome. A new kindred with variable phenotypic expression.

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21.

Bar RS et al. (1974) Fatal infectious mononucleosis in a family.

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22.

Hambleton G et al. (1969) Familial lymphoma.

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23.

Lyon MF et al. (1983) X-linked factor in acquired immunodeficiency syndrome?

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24.

Sullivan JL et al. (1980) Deficient natural killer cell activity in x-linked lymphoproliferative syndrome.

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25.

Purtilo DT et al. (1982) Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry.

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26.

Sullivan JL et al. (1983) X-linked lymphoproliferative syndrome. Natural history of the immunodeficiency.

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27.

None (1981) X-linked lymphoproliferative syndrome. An immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma.

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28.

Levine PH et al. (1982) The American Burkitt's Lymphoma Registry: eight years' experience.

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29.

Hamilton JK et al. (1980) X-linked lymphoproliferative syndrome registry report.

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30.

Williams LL et al. (1993) Correction of Duncan's syndrome by allogeneic bone marrow transplantation.

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31.

Vowels MR et al. (1993) Brief report: correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells.

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32.

Grierson HL et al. (1993) Evaluation of families wherein a single male manifests a phenotype of X-linked lymphoproliferative disease (XLP).

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33.

Skare J et al. (1993) Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.

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34.

Seemayer TA et al. (1995) X-linked lymphoproliferative disease: twenty-five years after the discovery.

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35.

Arkwright PD et al. (1998) X linked lymphoproliferative disease in a United Kingdom family.

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36.

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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37.

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

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38.

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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39.

Dutz JP et al. (2001) Lymphocytic vasculitis in X-linked lymphoproliferative disease.

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40.

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

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41.

Ma CS et al. (2006) Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease.

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42.

Verhelst H et al. (2007) Limbic encephalitis as presentation of a SAP deficiency.

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43.

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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44.

Booth C et al. (2011) X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.

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Update: 8. Juni 2020