Abstract
Mutations in SH2D1A, a gene that codifies for the regulatory protein SAP, result in uncontrolled activation of the SLAM (signaling lymphocyte-activation molecule) pathway. This X-linked immunodeficiency becomes evident when the patients are infected with Epstein Barr virus (EBV) and develop a fulminant form of infectious mononucleosis leading to a lymphoproliferative syndrome that is often fatal (X-linked lymphoproliferative syndrome, XLP). In those who survive, hypogammaglobulinemia and oncohematologic diseases are frequently observed. In this revision, the immuno-regulatory mechanisms involved in XLP immunopathology and the role of different effector cells (CD8 T lymphocytes, NK cells) are discussed.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Antigens, CD
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Carrier Proteins / genetics*
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Cytotoxicity, Immunologic
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Epstein-Barr Virus Infections / genetics*
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Epstein-Barr Virus Infections / immunology
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Glycoproteins / genetics*
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Herpesvirus 4, Human / immunology
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Humans
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Immunoglobulins / genetics*
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Intracellular Signaling Peptides and Proteins*
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Killer Cells, Natural / immunology
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Lymphoproliferative Disorders / genetics*
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Lymphoproliferative Disorders / immunology
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Receptors, Cell Surface
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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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T-Lymphocytes, Cytotoxic / immunology*
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, 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