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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.

Original publication




Journal article


Nat Genet

Publication Date





129 - 135


Antigens, CD, B-Lymphocytes, Carrier Proteins, Cloning, Molecular, Female, Genetic Linkage, Glycoproteins, Herpesviridae Infections, Herpesvirus 4, Human, Humans, Immunoglobulins, Intracellular Signaling Peptides and Proteins, Lymphoproliferative Disorders, Male, Molecular Sequence Data, Mutation, Pedigree, Receptors, Cell Surface, Sequence Alignment, Sequence Deletion, Signaling Lymphocytic Activation Molecule Associated Protein, Signaling Lymphocytic Activation Molecule Family Member 1, T-Lymphocytes, X Chromosome, src Homology Domains