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Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation
Maria Francisca Moraes-Fontes1,2, Amy P Hsu3, Iris Caramalho2
1Unidade de Doenças Auto-imunes Serviço Medicina 7.2 Hospital de Curry Cabral Centro Hospitalar de Lisboa Central Lisboa Portugal.
Abstract:
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.
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