X-linked lymphoproliferative syndrome


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

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

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.