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. |
Hamilton JK et al. (1980) X-linked lymphoproliferative syndrome registry report. ![]() |
2. |
Hayoz D et al. (1988) X-linked lymphoproliferative syndrome. Identification of a large family in Switzerland. ![]() |
3. |
Steinherz R et al. (1985) X-linked lymphoproliferative syndrome. A new kindred with variable phenotypic expression. ![]() |
4. |
Bar RS et al. (1974) Fatal infectious mononucleosis in a family. ![]() |
5. |
Hambleton G et al. (1969) Familial lymphoma. ![]() |
6. |
Lyon MF et al. (1983) X-linked factor in acquired immunodeficiency syndrome? ![]() |
7. |
Sullivan JL et al. (1980) Deficient natural killer cell activity in x-linked lymphoproliferative syndrome. ![]() |
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. ![]() |
9. |
Sullivan JL et al. (1983) X-linked lymphoproliferative syndrome. Natural history of the immunodeficiency. ![]() |
10. |
None (1981) X-linked lymphoproliferative syndrome. An immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma. ![]() |
11. |
Levine PH et al. (1982) The American Burkitt's Lymphoma Registry: eight years' experience. ![]() |
12. |
Loeffel S et al. (1985) Necrotizing lymphoid vasculitis in X-linked lymphoproliferative syndrome. ![]() |
13. |
Williams LL et al. (1993) Correction of Duncan's syndrome by allogeneic bone marrow transplantation. ![]() |
14. |
Vowels MR et al. (1993) Brief report: correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells. ![]() |
15. |
Grierson HL et al. (1993) Evaluation of families wherein a single male manifests a phenotype of X-linked lymphoproliferative disease (XLP). ![]() |
16. |
Skare J et al. (1993) Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. ![]() |
17. |
Seemayer TA et al. (1995) X-linked lymphoproliferative disease: twenty-five years after the discovery. ![]() |
18. |
Arkwright PD et al. (1998) X linked lymphoproliferative disease in a United Kingdom family. ![]() |
19. |
Dutz JP et al. (2001) Lymphocytic vasculitis in X-linked lymphoproliferative disease. ![]() |
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. ![]() |
21. |
Verhelst H et al. (2007) Limbic encephalitis as presentation of a SAP deficiency. ![]() |
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. ![]() |
23. |
Purtilo DT et al. (1977) Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome. ![]() |
24. |
Rigaud S et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. ![]() |
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. ![]() |
26. |
Sumegi J et al. () The molecular genetics of X-linked lymphoproliferative (Duncan's) disease. ![]() |
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). ![]() |
28. |
Nichols KE et al. (2005) Regulation of NKT cell development by SAP, the protein defective in XLP. ![]() |
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. ![]() |
30. |
Purtilo DT et al. (1975) X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). ![]() |
31. |
None (1976) Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome. ![]() |
32. |
Purtilo DT et al. (1978) Epstein-Barr virus infections in the X-linked recessive lymphoproliferative syndrome. ![]() |
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. ![]() |
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. ![]() |
35. |
Purtilo DT et al. (1977) Hematopathology and Pathogenesis of the X-linked recessive lymphoproliferative syndrome. ![]() |
36. |
Skare J et al. (1992) First prenatal diagnosis of X-linked lymphoproliferative disease. ![]() |
37. |
Mulley JC et al. (1992) X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male. ![]() |
38. |
Purtilo DT et al. (1991) Methods of detection of new families with X-linked lymphoproliferative disease. ![]() |
39. |
Sanger WG et al. (1990) Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP) ![]() |
40. |
Skare JC et al. (1989) Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq. ![]() |
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. ![]() |
42. |
Harris A et al. (1988) X-linked lymphoproliferative disease: a karyotype analysis. ![]() |
43. |
Skare JC et al. (1987) Mapping the X-linked lymphoproliferative syndrome. ![]() |
44. |
Harris A et al. (1988) X-linked lymphoproliferative disease: linkage studies using DNA probes. ![]() |