Associated Papers
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
A unique clinical presentation of X-linked lymphoproliferative syndrome with a novel mutation in SH2D1A and review of the literature.
Eckrich MJ et al.
Journal of Pediatric Hematology/oncology, 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
Regulation of NKT cell development by SAP, the protein defective in XLP.
Nichols KE et al.
Nature Medicine, 2005
Select a paper to view details