Schneider H Faschingbauer F Schuepbach-Mallepell S Körber I Wohlfart S Dick A Wahlbuhl M Kowalczyk-Quintas C Vigolo M Kirby N Tannert C Rompel O Rascher W Beckmann MW Schneider P 2018 Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We administered this protein intraamniotically to two affected human twins at gestational weeks 26 and 31 and to a single affected human fetus at gestational week 26; the infants, born in week 33 (twins) and week 39 (singleton), were able to sweat normally, and XLHED-related illness had not developed by 14 to 22 months of age. (Funded by Edimer Pharmaceuticals and others.). https://sonar.ch/global/documents/182147 eng info:eu-repo/semantics/altIdentifier/doi/10.1056/NEJMoa1714322 info:eu-repo/semantics/altIdentifier/pmid/29694819 The New England journal of medicine. - 2018 Adult Amniotic Fluid Antigens, CD Ectodermal Dysplasia 1, Anhidrotic Ectodysplasins Female Fetal Therapies Genetic Therapy Humans Immunoglobulin Fc Fragments Injections Male Mutation Pregnancy Prenatal Diagnosis Radiography Receptors, Fc Recombinant Fusion Proteins Recombinant Proteins Sweat Glands Tooth Germ Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. http://purl.org/coar/resource_type/c_6501