Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.

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.

SUBMITTER: Moraes-Fontes MF 

PROVIDER: S-EPMC5715409 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature