کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
9177283 1180387 2005 14 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Common Variable Immunodeficiency: Test Indications and Interpretations
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Common Variable Immunodeficiency: Test Indications and Interpretations
چکیده انگلیسی
Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder that can present with multiple phenotypes, all of which are characterized by hypogammaglobulinemia, in a person at any age. A specific genetic defect that accounts for all CVID phenotypes has not been identified, and it is likely that several distinct genetic disorders with similar clinical presentations are responsible for the observed variation. In this review, we summarize the known genetic mutations that give rise to hypogammaglobulinemia and how these gene products affect normal or abnormal B-cell development and function, with particular emphasis on CVID. Additionally, we describe specific phenotypic and genetic laboratory tests that can be used to diagnose CVID and provide guidelines for test interpretation and subsequent therapeutic intervention.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Mayo Clinic Proceedings - Volume 80, Issue 9, September 2005, Pages 1187-1200
نویسندگان
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