Associated Papers
The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor.
Jiang Y et al.
Case Reports in Immunology, 2020
The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.
Overwater E et al.
European Journal of Pediatrics, 2014
Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.
Palendira U et al.
The Journal of Experimental Medicine, 2012
Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP.
Palendira U et al.
Plos Biology, 2011
Genome wide analysis of pathogenic SH2 domain mutations.
Lappalainen I et al.
Proteins, 2008
Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.
Hare NJ et al.
International Immunology, 2006
SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells.
Dupré L et al.
Blood, 2005
Regulation of NKT cell development by SAP, the protein defective in XLP.
Nichols KE et al.
Nature Medicine, 2005
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.
Nichols KE et al.
Immunological Reviews, 2005
The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease.
Engel P et al.
Nature Reviews. Immunology, 2003
A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses.
Sumegi J et al.
Leukemia & Lymphoma, 2002
Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition.
Poy F et al.
Molecular Cell, 1999
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