title: Pathogenesis and diagnosis of X-linked lymphoproliferative disease.
abstract: X-linked lymphoproliferative syndrome (XLP) is a rare, often fatal, primary immunodeficiency that has profound and damaging effects on the immune system of affected individuals. It is characterized by a dysregulated immune response, most commonly to Epstein-Barr viral infection. The defective gene in this syndrome has been identified as SAP-SLAM (signaling lymphocyte activation molecule)-associated protein. It is an adapter molecule that is required for appropriate function of the SLAM-related receptors. There is now a greater understanding of the molecular associations and cellular pathogenesis of SAP and this review will summarize the most recent findings. Clinically, XLP may be difficult to diagnose as a result of its varied clinical phenotype, and protein and genetic assays are currently used to make a definitive diagnosis. With the advances in gene analysis and genomics technology, it is likely that better and more rapid diagnostic techniques will become available.
mesh_terms: D000361:Agammaglobulinemia / Q000503:physiopathology; D000818:Animals; D015703:Antigens, CD; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D006023:Glycoproteins / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007136:Immunoglobulins / Q000235:genetics / Q000378:metabolism*; D047908:Intracellular Signaling Peptides and Proteins; D008213:Lymphocyte Activation; D008223:Lymphoma / Q000503:physiopathology; D008232:Lymphoproliferative Disorders / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D010641:Phenotype; D011948:Receptors, Antigen, T-Cell / Q000378:metabolism; D011956:Receptors, Cell Surface; D015398:Signal Transduction; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D000071177:Signaling Lymphocytic Activation Molecule Family Member 1; D018909:src Homology Domains
chemical_list: D015703:Antigens, CD; D002352:Carrier Proteins; D006023:Glycoproteins; D007136:Immunoglobulins; D047908:Intracellular Signaling Peptides and Proteins; D011948:Receptors, Antigen, T-Cell; D011956:Receptors, Cell Surface; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D000071177:Signaling Lymphocytic Activation Molecule Family Member 1