Fatal CTLA‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation
نویسندگان
چکیده
Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course.
منابع مشابه
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عنوان ژورنال:
دوره 5 شماره
صفحات -
تاریخ انتشار 2017