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
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Agammaglobulinemia / physiopathology
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Animals
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Antigens, CD
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Carrier Proteins / genetics
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Carrier Proteins / metabolism
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Glycoproteins / genetics
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Glycoproteins / metabolism*
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Humans
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Immunoglobulins / genetics
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Immunoglobulins / metabolism*
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Intracellular Signaling Peptides and Proteins*
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Lymphocyte Activation
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Lymphoma / physiopathology
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Lymphoproliferative Disorders / diagnosis*
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Lymphoproliferative Disorders / genetics
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Lymphoproliferative Disorders / physiopathology*
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Phenotype
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Receptors, Antigen, T-Cell / metabolism
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Receptors, Cell Surface
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Signal Transduction
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Signaling Lymphocytic Activation Molecule Associated Protein
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Signaling Lymphocytic Activation Molecule Family Member 1
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src Homology Domains
Substances
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Antigens, CD
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Carrier Proteins
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Glycoproteins
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Immunoglobulins
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Intracellular Signaling Peptides and Proteins
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Receptors, Antigen, T-Cell
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Receptors, Cell Surface
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SH2D1A protein, human
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Signaling Lymphocytic Activation Molecule Associated Protein
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Signaling Lymphocytic Activation Molecule Family Member 1