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

Maria Francisca Moraes-Fontes, Amy P. Hsu, Iris Caramalho, Catarina Martins, Ana Carolina Araujo, Filipa Lourenco, Anna V. Taulaigo, Ana Llado, Steven M. Holland, Gulbu Uzel

Research output: Contribution to journalArticle

7 Downloads (Pure)
Original languageEnglish
Pages (from-to)2066-2070
Number of pages5
JournalCLINICAL CASE REPORTS
Volume5
Issue number12
DOIs
Publication statusPublished - Dec 2017

Keywords

  • CTLA-4 mutation
  • Evans syndrome
  • hypogammaglobulinemia
  • sepsis

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