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
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
The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease.
Engel P et al.
Nature Reviews. Immunology, 2003
Molecular and immunological basis of X-linked lymphoproliferative disease.
Latour S et al.
Immunological Reviews, 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
Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression.
Gilmour KC et al.
European Journal of Immunology, 2000
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