Author(s): Moraes-Fontes, MF ; Hsu, AP ; Caramalho, I ; Martins, C ; Araújo, AC ; Lourenço, F ; Taulaigo, AV ; Lladó, A ; Holland, SM ; Uzel, G
Date: 2017
Persistent ID: http://hdl.handle.net/10400.17/3081
Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
Subject(s): CTLA‐4 mutation; Evans Syndrome; Hypogammaglobulinemia; Sepsis; HCC DAUTOIM
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.
