Associated Papers
X-linked lymphoproliferative disease type 1: a clinical and genetic update.
Li J et al.
Frontiers in Immunology, 2025
X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia.
Blackburn PR et al.
Journal of Neuropathology and Experimental Neurology, 2019
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
Treatment of HCV infection with interferon alpha-2b and ribavirin in a patient with X-linked lymphoproliferative syndrome.
Strnad-Trojan N et al.
European Journal of Pediatrics, 2006
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.
Nichols KE et al.
Immunological Reviews, 2005
Mice deficient in the X-linked lymphoproliferative disease gene sap exhibit increased susceptibility to murine gammaherpesvirus-68 and hypo-gammaglobulinemia.
Yin L et al.
Journal of Medical Virology, 2003
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
A "three-pronged" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome.
Hwang PM et al.
The Embo Journal, 2002
Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.
Morra M et al.
The Journal of Biological Chemistry, 2001
Abnormal T cell receptor signal transduction of CD4 Th cells in X-linked lymphoproliferative syndrome.
Nakamura H et al.
Journal of Immunology (baltimore, Md. : 1950), 2001
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