کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6062387 1201840 2016 11 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder
موضوعات مرتبط
علوم زیستی و بیوفناوری ایمنی شناسی و میکروب شناسی ایمونولوژی
پیش نمایش صفحه اول مقاله
Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder
چکیده انگلیسی
A novel IRFBP2 mutation was identified in a family with autosomal dominant CVID. Transduction experiments suggest that the mutant protein has an effect on B-cell differentiation and is likely a monogenic cause of the family's CVID phenotype. Successful grouping by the SVM algorithm suggests that our family and other subjects with rare immunodeficiency disorders cluster separately and lack the genetic pattern present in polygenic CVID cases.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Allergy and Clinical Immunology - Volume 138, Issue 2, August 2016, Pages 544-550.e4
نویسندگان
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