Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy.

  title={Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy.},
  author={Nicolette Moes and Fr{\'e}d{\'e}ric Rieux-Laucat and Bernadette B{\`e}gue and Julien Verdier and B{\'e}n{\'e}dicte Neven and Natacha Patey and Troy T Torgerson and Capucine Picard and M. Stolzenberg and Corinne Ruemmele and Edmond Hhm Rings and J. Hugo P{\'e}rez Casanova and Hugues Piloquet and Armand Biver and A. Breton and Hans D. Ochs and Olivier Hermine and Alain Fischer and Olivier Goulet and Nadine Cerf-Bensussan and Frank M. Ruemmele},
  volume={139 3},
BACKGROUND & AIMS Little is known about the pathophysiology of early onset forms of autoimmune enteropathy (AIE). AIE has been associated with mutations in FOXP3-a transcription factor that controls regulatory T-cell development and function. We analyzed the molecular basis of neonatal or early postnatal AIE using clinical, genetic, and functional immunological studies. METHODS Gastroenterological and immunological features were analyzed in 9 boys and 2 girls with AIE that began within the… CONTINUE READING


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