TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

@article{Bigorgne2014TTC7AMD,
  title={TTC7A mutations disrupt intestinal epithelial apicobasal polarity.},
  author={Am{\'e}lie E Bigorgne and Henner F. Farin and Roxane Lemoine and Nizar Mahlaoui and Nathalie F. Lambert and Marine Gil and Ansgar Stephan Schulz and Pierre Philippet and Patrick Schlesser and Tore Gunnar Abrahamsen and Knut Oymar and E. Graham Davies and Christian Lycke Ellingsen and Emmanuelle A Leteurtre and Brigitte Moreau-Massart and Dominique Berrebi and Christine B{\^o}le-Feysot and Patrick Nischk{\'e} and Nicole Brousse and Alain Fischer and Hans Clevers and Genevi{\`e}ve de Saint Basile},
  journal={The Journal of clinical investigation},
  year={2014},
  volume={124 1},
  pages={328-37}
}
Multiple intestinal atresia (MIA) is a rare cause of bowel obstruction that is sometimes associated with a combined immunodeficiency (CID), leading to increased susceptibility to infections. The factors underlying this rare disease are poorly understood. We characterized the immunological and intestinal features of 6 unrelated MIA-CID patients. All patients displayed a profound, generalized lymphocytopenia, with few lymphocytes present in the lymph nodes. The thymus was hypoplastic and… CONTINUE READING
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