Associated Papers
X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis.
de la Varga-Martínez R et al.
Journal of Pediatric Hematology/oncology, 2017
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
Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.
Gifford CE et al.
Cytometry. Part B, Clinical Cytometry, 2014
The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease.
Engel P et al.
Nature Reviews. Immunology, 2003
Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors.
Li C et al.
The Journal of Biological Chemistry, 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
Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.
Sumegi J et al.
Blood, 2000
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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