A nonsense mutation in IKBKB causes combined immunodeficiency
نویسندگان
چکیده
منابع مشابه
A nonsense mutation in IKBKB causes combined immunodeficiency.
Identification of the molecular etiologies of primary immunodeficiencies has led to important insights into the development and function of the immune system. We report here the cause of combined immunodeficiency in 4 patients from 2 different consanguineous Qatari families with similar clinical and immunologic phenotypes. The patients presented at an early age with fungal, viral, and bacterial...
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ژورنال
عنوان ژورنال: Blood
سال: 2014
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2014-04-571265