X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma.

@article{Rezaei2011XlinkedLS,
  title={X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma.},
  author={Nima Attaran Rezaei and Elham Mahmoudi and Asghar Aghamohammadi and Rupali Das and Kim E Nichols},
  journal={British journal of haematology},
  year={2011},
  volume={152 1},
  pages={13-30}
}
X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterized by the clinical triad of increased susceptibility to primary Epstein-Barr virus (EBV) infection, dysgammaglobulinaemia and lymphoma. Most cases are caused by germline mutations in the SH2D1A gene, which encodes the adaptor molecule Signalling Lymphocytic Activation Molecule (SLAM)-associated protein (SAP). Recently, a subset of patients with an XLP-like phenotype was found to carry mutations in XIAP, the… CONTINUE READING