کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5654789 | 1589407 | 2017 | 17 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia
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کلمات کلیدی
BCRSCIDXLAAgammaglobulinemiaMicrodeletionVDJIGHCBtk - BTKX-linked agammaglobulinemia - اگاماگلوبولینمی مرتبط با XBruton's tyrosine kinase - تیروزین کیناز BrutonSevere combined immunodeficiency syndrome - سندرم کمبود کمبود ایمنی شدیدprimary immunodeficiency - کمبود ایمنی اولیهB-cell receptor - گیرنده سلول B
موضوعات مرتبط
علوم زیستی و بیوفناوری
ایمنی شناسی و میکروب شناسی
ایمونولوژی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Over the past decades, a pleiotropic spectrum of B-cell intrinsic defects leading to early onset agammaglobulinemia and absent B cells has been described. Herein we report terminal 14q32.33 deletion as a novel cause of agammaglobulinemia. We describe a 20-year old man with a 1Â MB terminal 14q32.33 deletion resulting in a loss of the entire Immunoglobulin heavy chain gene region of chromosome 14. The patient presented with absent serum immunoglobulin levels and absent circulating B cells since age 2. The clinical picture was dominated by severe episodes of recurrent upper respiratory tract infections. In the literature, the most prevalent features of terminal 14q32.33 deletions include mental disability, facial malformation, hypotonia, seizures, and visual problems with retinal abnormalities. Neither increased susceptibility to infections nor agammaglobulinemia have been described as a manifestation of terminal 14q32.33 deletion. Thus, our findings expand the known clinical spectrum of terminal 14q32.33 deletion to include susceptibility to infections.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Immunology - Volume 183, October 2017, Pages 41-45
Journal: Clinical Immunology - Volume 183, October 2017, Pages 41-45
نویسندگان
Christoph B. Geier, Alexander Piller, Martha M. Eibl, Peter Ciznar, Denisa Ilencikova, Hermann M. Wolf,