Associated Papers
Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report.
Lyu X et al.
Bmc Medical Genetics, 2018
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
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.
Nichols KE et al.
Immunological Reviews, 2005
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
Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome.
Morra M et al.
Blood, 2001
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