Browsing by Author "Hsu, AP"
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- Fatal CTLA-4 Heterozygosity With Autoimmunity and Recurrent Infections: a De Novo MutationPublication . Moraes-Fontes, MF; Hsu, AP; Caramalho, I; Martins, C; Araújo, AC; Lourenço, F; Taulaigo, AV; Lladó, A; Holland, SM; Uzel, GPrimary 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.
- MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell TransplantationPublication . Moraes-Fontes, MF; Caramalho, Í; Hsu, AP; Holland, SM; Abecasis, M