2005 Fiscal Year Final Research Report Summary
Pathogenesis of hyper-IgE syndrome and establishment of a method for rapid diagnosis
| Project/Area Number |
16591040
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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 | KYUSHU UNIVERSITY |
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Principal Investigator |
TAKADA Hidetoshi Kyushu university, Kyushu University Hospital, Assistant Professor, 大学病院, 講師 (70294931)
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| Co-Investigator(Kenkyū-buntansha) |
NOMURA Akihiko Kyushu university, Kyushu University Hospital, Research Associate, 大学病院, 助手 (00325531)
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| Project Period (FY) |
2004 – 2005
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| Keywords | Hyper-IgE syndrome / Microarray / Rapid diagnosis / Quantitative PCR |
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| Research Abstract |
Hyper-immunoglobulin E (IgE) syndrome (HIES) is one of the primary immunodeficiency syndromes. Although the cytokine dysregulation is suggested to play a role in the pathophysiology, the causative gene has not yet been identified. To investigate th pathophysiology and candidate genes of the disease, we performed microarray analysis of unstimulated peripheral CD4^+ T cells and CD14^+ cells as well as of peripheral blood mononuclear cells (PBMNC) with the stimulation of Staphylococcus aureus. By microarray analysis, 38 genes showed over 2-fold differences between the HIES patients and healthy controls in purified CD14^+ cells, although only small differences in the gene expression profiles were observed between the two groups in purified CD4^+ T cells. RGC32 expression levels showed the greatest difference between the two groups, and were significantly elevated in HIES compared with those in severe atopic dermatitis or healthy controls using real-time PCR. A significantly larger number of lysosome-related genes was up-regulated, and significantly larger number of genes related to the cell growth and maintenance was down-regulated in HIES. After the stimulation of PBMNC with Staphylococcus aureus, 51 genes showed over 3-fold differences between HIES patients and healthy controls. A significantly large number of immunoglobulin-related genes was up-regulated in HIES. The distinct patterns of gene expression profiles and RGC32 expression levels would be useful in the understanding of the pathophysiology and in the diagnosis of HIES, respectively. The results of this study were published in Clinical and Experimental Immunology (143(3) 524-531, 2005).
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[Journal Article] Genetic subtypes of familial hemophagocytic lymphohistiocytosis : correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.2005
Author(s)
Ishii E, Ueda I, Shirakawa R, Yamamoto K, Horiuchi H, Ohga S, Furuno K, Morimoto A, Imayoshi M, Ogata Y, Zaitsu M, Sako M, Koike K, Sakata A, Takada H, Hara T, Imashuku S, Sasazuki T, Yasukawa M
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Journal Title
Blood 105・9
Pages: 3442-3448
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes.
Author(s)
Yamamoto K, Ishii E, Sako M, Ohga S, Furuno K, Suzuki N, Ueda I, Imayoshi M, Yamamoto S, Morimoto A, Takada H, Hara T, Imashuku S, Sasazuki T, Yasukawa M
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Journal Title
Journal of Medical Genetics
Description
「研究成果報告書概要(欧文)」より
