X-linked lymphoproliferative syndrome 1 is a recessive disorder caused by mutations of the SH2D1A gene. It is characterized by immunodeficiency in particular against EBV infections.
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| 1. |
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| 2. |
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| 8. |
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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| 10. |
None (1981) X-linked lymphoproliferative syndrome. An immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma.
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| 11. |
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| 12. |
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| 13. |
Williams LL et al. (1993) Correction of Duncan's syndrome by allogeneic bone marrow transplantation.
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| 14. |
Vowels MR et al. (1993) Brief report: correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells.
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| 15. |
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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| 16. |
Skare J et al. (1993) Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.
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| 17. |
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| 18. |
Arkwright PD et al. (1998) X linked lymphoproliferative disease in a United Kingdom family.
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| 19. |
Dutz JP et al. (2001) Lymphocytic vasculitis in X-linked lymphoproliferative disease.
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| 20. |
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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| 21. |
Verhelst H et al. (2007) Limbic encephalitis as presentation of a SAP deficiency.
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| 22. |
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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| 23. |
Purtilo DT et al. (1977) Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome.
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| 24. |
Rigaud S et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
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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. |
Sumegi J et al. () The molecular genetics of X-linked lymphoproliferative (Duncan's) disease.
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| 27. |
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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| 28. |
Nichols KE et al. (2005) Regulation of NKT cell development by SAP, the protein defective in XLP.
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| 29. |
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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| 30. |
Purtilo DT et al. (1975) X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).
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| 31. |
None (1976) Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome.
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| 32. |
Purtilo DT et al. (1978) Epstein-Barr virus infections in the X-linked recessive lymphoproliferative syndrome.
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| 33. |
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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| 34. |
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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| 35. |
Purtilo DT et al. (1977) Hematopathology and Pathogenesis of the X-linked recessive lymphoproliferative syndrome.
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| 36. |
Skare J et al. (1992) First prenatal diagnosis of X-linked lymphoproliferative disease.
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| 37. |
Mulley JC et al. (1992) X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male.
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| 38. |
Purtilo DT et al. (1991) Methods of detection of new families with X-linked lymphoproliferative disease.
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| 39. |
Sanger WG et al. (1990) Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)
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| 40. |
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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| 41. |
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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| 42. |
Harris A et al. (1988) X-linked lymphoproliferative disease: a karyotype analysis.
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| 43. |
Skare JC et al. (1987) Mapping the X-linked lymphoproliferative syndrome.
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| 44. |
Harris A et al. (1988) X-linked lymphoproliferative disease: linkage studies using DNA probes.
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