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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...

Ausführliche Beschreibung

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Bibliografische Detailangaben
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Wiley 2017-12-01
Schriftenreihe:Clinical Case Reports
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Online-Zugang:https://doi.org/10.1002/ccr3.1257
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