Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia

Beitrag in einer Fachzeitschrift

Details zur Publikation

Autorinnen und Autoren: Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Koerber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N, Tannert C, Rompel O, Rascher W, Beckmann M, Schneider P
Zeitschrift: New England Journal of Medicine
Jahr der Veröffentlichung: 2018
Band: 378
Heftnummer: 17
Seitenbereich: 1604-1610
ISSN: 0028-4793


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.).

FAU-Autorinnen und Autoren / FAU-Herausgeberinnen und Herausgeber

Beckmann, Matthias Prof. Dr.
Lehrstuhl für Geburtshilfe und Frauenheilkunde
Rascher, Wolfgang Prof. Dr. med.
Kinder- und Jugendklinik
Schneider, Holm Prof. Dr.
Professur für Kinderheilkunde/Experimentelle Perinatalmedizin
Wohlfart, Sigrun Dr. rer. nat.
Kinder- und Jugendklinik

Einrichtungen weiterer Autorinnen und Autoren

Edimer Pharmaceuticals
Radiologie Nienburg
Université de Lausanne (UNIL)


Schneider, H., Faschingbauer, F., Schuepbach-Mallepell, S., Koerber, I., Wohlfart, S., Dick, A.,... Schneider, P. (2018). Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. New England Journal of Medicine, 378(17), 1604-1610.

Schneider, Holm, et al. "Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia." New England Journal of Medicine 378.17 (2018): 1604-1610.


Zuletzt aktualisiert 2019-01-03 um 12:53