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

Key Clinical Message 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. Unusu...

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Auteurs principaux:	Maria Francisca Moraes‐Fontes, Amy P. Hsu, Iris Caramalho, Catarina Martins, Ana Carolina Araújo, Filipa Lourenço, Anna V. Taulaigo, Ana Lladó, Steven M. Holland, Gulbu Uzel
Format:	Artigo
Langue:	Inglês
Publié:	Wiley 2017-12-01
Collection:	Clinical Case Reports
Sujets:	CTLA‐4 mutation Evans syndrome hypogammaglobulinemia sepsis
Accès en ligne:	https://doi.org/10.1002/ccr3.1257
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