Abstract
X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Antigens, CD
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B-Lymphocytes / immunology
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B-Lymphocytes / virology
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Carrier Proteins / genetics*
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Carrier Proteins / metabolism
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Cloning, Molecular
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Female
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Genetic Linkage
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Glycoproteins / metabolism
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Herpesviridae Infections / complications*
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Herpesviridae Infections / immunology
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Herpesviridae Infections / virology
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Herpesvirus 4, Human*
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Humans
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Immunoglobulins / metabolism
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Intracellular Signaling Peptides and Proteins*
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Lymphoproliferative Disorders / complications
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Lymphoproliferative Disorders / genetics*
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Lymphoproliferative Disorders / immunology
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Lymphoproliferative Disorders / virology
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Male
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Molecular Sequence Data
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Mutation*
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Pedigree
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Receptors, Cell Surface
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Sequence Alignment
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Sequence Deletion
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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 / immunology
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T-Lymphocytes / virology
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X Chromosome
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src Homology Domains / genetics*
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