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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...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715409/ https://www.ncbi.nlm.nih.gov/pubmed/29225858 http://dx.doi.org/10.1002/ccr3.1257

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