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X-linked lymphoproliferative syndrome


Definition: an X-linked recessive immunodeficiency and lymphoproliferative disease caused by mutation in the SH2 domain protein 1A gene (SH2D1A) on Xq; characterized by defective cellular or humoral immune response to Epstein-Barr virus; manifestations include fulminant infectious mononucleosis, B-cell malignancies, and hypogammaglobulinemia.

Synonym(s): Duncan disease, Duncan syndrome, lymphoproliferative syndrome, X-linked lymphoproliferative disease

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.