Moraes-Fontes, MFHsu, APCaramalho, IMartins, CAraújo, ACLourenço, FTaulaigo, AVLladó, AHolland, SMUzel, G2018-10-222018-10-222017-12Send to Clin Case Rep. 2017;5(12):2066-207http://hdl.handle.net/10400.17/3081Primary 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.engCTLA‐4 mutationEvans SyndromeHypogammaglobulinemiaSepsisHCC DAUTOIMFatal CTLA-4 Heterozygosity With Autoimmunity and Recurrent Infections: a De Novo Mutationjournal article10.1002/ccr3.1257