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

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.

Descrição

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Palavras-chave

CTLA-4 mutation Evans syndrome hypogammaglobulinemia sepsis

URI

http://hdl.handle.net/10400.7/816

Citação

Clinical Case Reports 2017; 5(12): 2066–2070

Editora

Wiley Open Access

DOI

10.1002/ccr3.1257

Coleções

LP - Artigos

Licença CC

cclicense-by

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