PMID- 10814994
OWN - NLM
STAT- MEDLINE
DCOM- 20000621
LR  - 20190822
IS  - 0361-8609 (Print)
IS  - 0361-8609 (Linking)
VI  - 64
IP  - 2
DP  - 2000 Jun
TI  - Large deletion of the X-linked lymphoproliferative disease gene detected by 
      fluorescence in situ hybridization.
PG  - 128-32
AB  - 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.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Honda, K
AU  - Honda K
AD  - Division of Pediatrics, Hamanomachi Hospital, Fukuoka, Japan.
FAU - Kanegane, H
AU  - Kanegane H
FAU - Eguchi, M
AU  - Eguchi M
FAU - Kimura, H
AU  - Kimura H
FAU - Morishima, T
AU  - Morishima T
FAU - Masaki, K
AU  - Masaki K
FAU - Tosato, G
AU  - Tosato G
FAU - Miyawaki, T
AU  - Miyawaki T
FAU - Ishii, E
AU  - Ishii E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hematol
JT  - American journal of hematology
JID - 7610369
RN  - 0 (Carrier Proteins)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (SH2D1A protein, human)
RN  - 0 (Signaling Lymphocytic Activation Molecule Associated Protein)
SB  - IM
MH  - Carrier Proteins/genetics
MH  - *Gene Deletion
MH  - *Genetic Linkage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - *Intracellular Signaling Peptides and Proteins
MH  - Lymphoproliferative Disorders/*genetics
MH  - Male
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Signaling Lymphocytic Activation Molecule Associated Protein
MH  - *X Chromosome
EDAT- 2000/05/18 09:00
MHDA- 2000/06/24 11:00
CRDT- 2000/05/18 09:00
PHST- 2000/05/18 09:00 [pubmed]
PHST- 2000/06/24 11:00 [medline]
PHST- 2000/05/18 09:00 [entrez]
AID - 10.1002/(SICI)1096-8652(200006)64:2<128::AID-AJH11>3.0.CO;2-# [pii]
AID - 10.1002/(sici)1096-8652(200006)64:2<128::aid-ajh11>3.0.co;2-# [doi]
PST - ppublish
SO  - Am J Hematol. 2000 Jun;64(2):128-32. doi: 
      10.1002/(sici)1096-8652(200006)64:2<128::aid-ajh11>3.0.co;2-#.