https://scholars.lib.ntu.edu.tw/handle/123456789/568049
標題: | DiGeorge sequence with hypogammaglobulinemia: A case report | 作者: | YIN-HSIU CHIEN YAO-HSU YANG Chu S.-Y. WUH-LIANG HWU Kuo P.-L. BOR-LUEN CHIANG |
公開日期: | 2002 | 卷: | 35 | 期: | 3 | 起(迄)頁: | 187-190 | 來源出版物: | Journal of Microbiology, Immunology and Infection | 摘要: | The most common immunodeficiency in DiGeorge sequence patients is defects in T-cell production due to insufficient thymic tissue. However, because T-lymphocytes are important in regulating antibody responses, DiGeorge sequence is no longer regarded as a pure deficiency of cellular immunity but also a form of variable-combined immunodeficiency. Here we presented a 4-month-old male infant with characteristic facial dysmorphism, thymus dysplasia, tetralogy of Fallot, and documented deletion of chromosome 22q11.2 who had decrease B-lymphocyte numbers and hypogammaglobulinemia. The mitogen responses of T-lymphocytes function were normal with adequate number of CD4+ lymphocytes. This case report highlights the importance of evaluating not only the cellular but also the humoral immune function in patients with DiGeorge sequence. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036746210&partnerID=40&md5=86e4658c358eb2ebe68af05ec52c3d77 https://scholars.lib.ntu.edu.tw/handle/123456789/568049 |
ISSN: | 0253-2662 | SDG/關鍵字: | article; case report; cellular immunity; chromosome 22q; chromosome deletion; combined immunodeficiency; DiGeorge syndrome; dysplasia; face dysmorphia; Fallot tetralogy; fluorescence in situ hybridization; human; humoral immunity; hypogammaglobulinemia; infant; male; syndrome delineation; thymus disease; Agammaglobulinemia; Antibody Formation; CD4 Lymphocyte Count; CD8-Positive T-Lymphocytes; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Face; Fatal Outcome; Hemagglutinins; Humans; Immunity, Cellular; Immunoglobulins; In Situ Hybridization, Fluorescence; Infant; Lymphocyte Subsets; Male |
顯示於: | 醫學系 |
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