Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.
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ABSTRACT:
SUBMITTER: Moraes-Fontes MF
PROVIDER: S-EPMC5715409 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Publications
Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.
Moraes-Fontes Maria Francisca MF Hsu Amy P AP Caramalho Iris I Martins Catarina C Araújo Ana Carolina AC Lourenço Filipa F Taulaigo Anna V AV Lladó Ana A Holland Steven M SM Uzel Gulbu G
Clinical case reports 20171106 12
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. ...[more]
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