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相關文獻
- Common Variable Immunodeficiency with Mosaic Trisomy 8: Report of One Case
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題名 | Common Variable Immunodeficiency with Mosaic Trisomy 8: Report of One Case=在第八染色體三體症候群的常見變異性免疫不全:一病例報告 |
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作者姓名(中文) | 于鴻仁; 楊敏瑜; 葉文婷; 楊崑德; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷期 | 41:6 民89.11-12 |
頁次 | 頁331-335+353 |
分類號 | 417.133 |
關鍵詞 | 常見變異性免疫不全; 支氣管擴張症; 惡性貧血; 鑲嵌性第八對染色體三體徵候群; Common variable immunodeficiency; Bronchietasis; Pernicious anemia; Mosaic trisomy 8 syndrome; |
語文 | 英文(English) |
中文摘要 | 我們報告一位十七歲女性患有常見變異性免疫不全(common variable immunodeficiency)合併支氣管擴張症、惡性貧血及鑲嵌性第八染色體三體症候群(mosaic twisomy8)。病人臨床表現出反覆鼻竇炎和肺部感染、頑固性腹瀉、惡性貧血及原發性無月經。免疫學檢查發現有全面性抗體低下及周邊血液B-細胞(4%)和CD4+T細胞(25%)减少的情形。與對照給相較,我們發現病人的淋巴球不論在特異刺激原(BCG)或非特異刺激原(PHA)的刺激下,增生反應都明顯較差。而淋巴球在液體外培養後所分泌的第四種介白素(IL-4)及丙種干擾素(IFN-γ)也都明顯較低。由病人血中較大的紅血球體積(MCV=112.9Fl),顆粒球分葉增加以及對靜注維生素B12的良好反應,我們可知道病人患有惡性貧血。有趣的是病人周邊血液單核球却呈現鑲嵌式第八染色體三體現象,而骨髓中的單核球却呈現正常的46XY核型。就我們所知這是文獻中第一例常見變異性免疫不全合併有鑲嵌式第八染色體三體的報告。此病例報告訴我們當病人有反覆性氣管炎、腹瀉、營養不良及惡性貧血時,應考慮到常見變異性免疫不全之可能。而第八染色體基因異常是否會導致常見變異性免疫不全,也需要進一步研究。 |
英文摘要 | This case study reported a 17-year-old female of common variable immunodeficiency (CVID) associated with bronchiectasis, pernicious anemia and mosaic trisomy 8. Clinically this patient presented with recurrent sinopulmonary infections, intractable diarrhea, macrocytic anemia, and primary amenorrhea. Immunological tests showed pan-hypogammaglobulinemia and a decrease of peripheral blood B cells (4%) and CD4+ cells (25%). Lymphoproliferative responses to mitogen (PHA) and specific antigen (BCG) were profoundly impaired in the patient in comparison to those in control. Production of interleukin 4 (IL-4) and gamma interferon (IFN-γ) in the in vitro lymphoproliferation was also profoundly depressed. Pernicious anemia demonstrated by larger MCV (112.9fl) and hyper-segmental granulocytes on peripheral blood smear responded to parental administration of vitamin B12. Interestingly, she had a mosaic trisomy 8 in peripheral blood mononuclear cells but normal 46XX karyotype in the bone marrow cells. To our knowledge, this is the first case of CVID associated with mosaic trisomy 8 reported in the literature. As the case exemplifies, CVID should be considered when the physicians evaluate the patient presenting with recurrent sinopulmonary infections, diarrhea, malnutrition, and pernicious anemia. It requires further study to explore whether the genes in the chromosome 8 are linked to CVID. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。