Associated Papers
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.
Xu T et al.
European Journal of Pediatrics, 2020
Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1.
Hoshino A et al.
The Journal of Allergy and Clinical Immunology, 2019
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
Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature.
Jin YY et al.
Human Immunology, 2016
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
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis.
Yang X et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
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
X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein.
Schuster V et al.
Immunological Reviews, 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