2002 Fiscal Year Final Research Report Summary
SAP gene mutations in Epstein-Barr virus-associated illnesses and study for its pathogenesis
| Project/Area Number |
13670787
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | TOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY |
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Principal Investigator |
KANEGANE Hirokazu Toyama Medical and Pharmaceutical University Faculty of Medicine Department of Pediatrics Assistant Professor, 附属病院, 講師 (00293324)
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| Project Period (FY) |
2001 – 2002
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| Keywords | X-linked lymphoproliferative syndrome / Epstein-Barr virus / SAP gene / Fatal infectious mononucleosis / Malignant fymphoma / Dysgammaglobulinemia / Chronic active EBV infection / Flow cytometry |
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| Research Abstract |
There are various types of Epstein-Barr virus (EBV)-associated illnesses, which may be caused by abnormality of virus strain or host immunosurveillance. X-linked lymphoprbliferative syndrome (XLP) is a primary immunodeficiency characterized by a vulnerability to EBV infection. The XLP patient presents with various symptoms such as fatal infectious mononucleosis, malignant lymphoma and dysgammaglobulinemia, and the clinical diagnosis may be difficult if he has no family history. Based on the discovery of its causative gene SAP in 1998, we searched for SAP mutations in 40 males with severe EBV-associated illnesses. Although it had been believed that we had no XLP patients in Japan, we identified 10 patients from 9 XLP families (Blood 98 : 1268, 2001). SAP mutations were not related to chronic active EBV infections. Approximately half of XLP patients present with fatal infectious mononucleosis, by which more than 90% patients are dead. These patients can be cured only by stem cell transplantation, and early diagnosis and immediate treatment is required. We have established a flow cytmetoric assay for X-linked agammaglobulinemia, and a similar method for XLP was required. Wfe established anti-SAP monoclonal antibody by rat immunization, and identified new 3 XLP families by flow cytormetric assay using this antibody (Int Immunol 14 : 1215, 2002). Recently, we diagnosed a 17-year-old boy who had IgG2 subclass deficiency and EBV-positive lymphoma as having XLP. The monoclonal antibody established by us can be uniquely applicable to flow cytometric assay, and we provided them to other laboratories all over the world. We hope that it is useful for not only the detection of XLP patient but also the analysis of SAP function.
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