X-linked lymphoproliferative syndrome


Also found in: Acronyms.

X-linked lymphoproliferative syndrome

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.

X-linked lymphoproliferative syndrome

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.

X-linked lymphoproliferative syndrome

a rare X-linked immunodeficiency in which there is a normal response to childhood infection but infection with Epstein-Barr produces a fatal lymphoproliferative disorder. Most patients die of acute infection. Others develop hypogammaglobulinemia, B-cell lymphoma, aplastic anemia, or agranulocytosis.

X-link·ed lym·pho·pro·lif·er·a·tive syn·drome

(lingkt lim'fō-prō-lif'ĕr-ă-tiv sin'drōm)
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.
References in periodicals archive ?
HLH may also occur as a complication of Chediak-Higashi syndrome (35) or after EBV infection in patients with X-linked lymphoproliferative syndrome (36).
It was another cruel blow for the couple from Swinton, Manchester, who face losing three of their sons through the inherited genetic disorder, X-linked LymphoProliferative Syndrome.
David and Allison Hartley's sons Joshua, 12, Nathan, 10, Daniel, eight, and Luke, four, were diagnosed with the extremely rare genetic defect known as X-Linked Lymphoproliferative Syndrome, or Duncan's Syndrome, last November.

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