Email from a physician in Chile |
Monday, 25 April 2016 21:21 |
Dopo la pubblicazione su nature.com Riceviamo e pubblichiamo con immenso piacere questa email che ci gratifica di tutti gli sforzi che stiamo facendo.
Email from a physician in Chile:
"I received Nat Immunol Table of Contents yesterday, read your paper, and found out I have a patient with XLPDR here with identical phenotype to what you describe. Skin, hypohydrosis, face, hair, chronic keratitis, bronchiectasis, all fit very clearly with this diagnosis. Due to an abnormal sweat test and lung disease he was thought during many years to have CF. Certainly the abnormal sweat test seems to have been due to hypohydrosis...
Thank you for a fascinating discovery and manuscript." |