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Title: Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation
Author: Moraes-Fontes, Maria Francisca
Hsu, Amy P.
Caramalho, Iris
Martins, Catarina
Araújo, Ana Carolina
Lourenço, Filipa
Taulaigo, Anna V.
Lladó, Ana
Holland, Steven M.
Uzel, Gulbu
Keywords: CTLA-4 mutation
Evans syndrome
Issue Date: 5-Dec-2017
Publisher: Wiley Open Access
Citation: Clinical Case Reports 2017; 5(12): 2066–2070
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.
Description: Further funders are not indicated in the document. There is no public supplementary material available for this publication. This deposit is composed by the main article, and it hasn't any supplementary materials associated.
Peer review: yes
DOI: 10.1002/ccr3.1257
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Appears in Collections:LP - Artigos

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