Large deletion of the X-linked lymphoproliferative disease gene detected by fluorescence in situ hybridization.
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.
Honda
K
K
Division of Pediatrics, Hamanomachi Hospital, Fukuoka, Japan.
Kanegane
H
H
Eguchi
M
M
Kimura
H
H
Morishima
T
T
Masaki
K
K
Tosato
G
G
Miyawaki
T
T
Ishii
E
E
D002352:Carrier Proteins / Q000235:genetics; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D008297:Male; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D014960:X Chromosome
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein