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- W1984177164 abstract "Abstract Patients with defective ectodysplasin A (EDA) have X‐linked hypohidrotic ectodermal dysplasia (XLHED; OMIM#305100), a condition comprising hypotrichosis, inability to sweat, abnormal teeth, and frequent pulmonary infections. The XLHED dogs show the same clinical signs as humans with the disorder, including frequent respiratory infections that can be fatal. The respiratory disease in humans and dogs is thought to be due to the absence of tracheal and bronchial glands which are a vital part of the mucociliary clearance mechanism. In our XLHED model, the genetically missing EDA was replaced by postnatal intravenous administration of recombinant EDA resulting in long‐term, durable corrective effect on adult, permanent dentition. After treatment with EDA, significant correction of the missing tracheal and bronchial glands was achieved in those dogs that received higher doses of EDA. Moreover, successful treatment resulted in the presence of esophageal glands, improved mucociliary clearance, and the absence of respiratory infection. These results demonstrate that a short‐term treatment at a neonatal age with a recombinant protein can reverse a developmental disease and result in vastly improved quality of life. © 2009 Wiley‐Liss, Inc." @default.
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- W1984177164 date "2009-06-16" @default.
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- W1984177164 title "Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X‐linked ectodermal dysplasia" @default.
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- W1984177164 doi "https://doi.org/10.1002/ajmg.a.32916" @default.
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