Browsing by Author "Moraes-Fontes, Maria Francisca"
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- Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutationPublication . Moraes-Fontes, Maria Francisca; Hsu, Amy P.; Caramalho, Iris; Martins, Catarina; Araújo, Ana Carolina; Lourenço, Filipa; Taulaigo, Anna V.; Lladó, Ana; Holland, Steven M.; Uzel, GulbuPrimary 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.