کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5654836 1589411 2017 12 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two
موضوعات مرتبط
علوم زیستی و بیوفناوری ایمنی شناسی و میکروب شناسی ایمونولوژی
پیش نمایش صفحه اول مقاله
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two
چکیده انگلیسی
Mutations in PIK3R1 gene have been associated to two different conditions: a primary immunodeficiency, called APDS2, of recent description and SHORT syndrome. 47 patients with APDS2 have been reported to date, only one of them sharing both PIK3R1-related phenotypes. Here we describe two more patients affected by APDS2 and SHORT syndrome, which highlights that this association may not be so infrequent. We recommend that patients with mutations in PIK3R1 gene should be assessed by both clinical immunologists and clinical geneticists.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Immunology - Volume 179, June 2017, Pages 77-80
نویسندگان
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