کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6087400 1207360 2015 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Letter to the EditorAltered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype
موضوعات مرتبط
علوم زیستی و بیوفناوری ایمنی شناسی و میکروب شناسی ایمونولوژی
پیش نمایش صفحه اول مقاله
Letter to the EditorAltered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype
چکیده انگلیسی


- Eight patients with PIK3R1 gain of function mutations have been reported to date.
- We have identified 4 novel unrelated patients to be mutated in PIK3R1.
- PIK3R1 mutated patients present early peripheral B cell arrest.
- PIK3R1 mutations alter the GC reaction resembling AID deficiency.
- Poor growth emerges as an accompanying feature of this disorder.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Immunology - Volume 159, Issue 1, July 2015, Pages 33-36
نویسندگان
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