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Large deletion of the X‐linked lymphoproliferative disease gene detected by fluorescence in situ hybridization
Author(s) -
Honda K.,
Kanegane H.,
Eguchi M.,
Kimura H.,
Morishima T.,
Masaki K.,
Tosato G.,
Miyawaki T.,
Ishii E.
Publication year - 2000
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(200006)64:2<128::aid-ajh11>3.0.co;2-#
Subject(s) - fluorescence in situ hybridization , in situ hybridization , in situ , gene , biology , medicine , pathology , microbiology and biotechnology , genetics , chemistry , chromosome , gene expression , organic chemistry
The X‐linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterized by an abnormal responses to infection with Epstein–Barr virus (EBV), resulting in fatal infectious mononucleosis, hypogammaglobulinemia, virus‐associated hemophagocytic syndrome, and malignant lymphoma. Mutations in the gene coding for a T cell‐specific SLAM‐associated protein (SAP) have been recently identified in XLP patients. We report on a 1‐year‐old boy representing fulminant hemophagocytic syndrome. He developed high fever, lymphadenopathy, hepatosplenomegaly with liver dysfunction, and pancytopenia with marrow hemophagocytosis. EBV DNA was abnormally increased in the blood. Polymerase chain reaction failed to amplify SAP mRNA and genomic DNA products from the patient' As peripheral blood. A large deletion of the SAP gene was confirmed by fluorescence in situ hybridization (FISH). FISH analysis also disclosed that the patient's mother was a carrier. We conclude that FISH can be useful in the diagnosis of XLP with large deletions of the SAP gene and its carrier state. Am. J. Hematol. 64:128–132, 2000. © 2000 Wiley‐Liss, Inc.