Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

Détails

Ressource 1Télécharger: Schneider NEJMed.pdf (2791.71 [Ko])
Etat: Public
Version: Author's accepted manuscript
ID Serval
serval:BIB_7D5E9C7A775B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
Périodique
The New England Journal of Medicine
Auteur(s)
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 M.W., Schneider P.
ISSN
1533-4406 (Electronic)
ISSN-L
0028-4793
Statut éditorial
Publié
Date de publication
2018
Peer-reviewed
Oui
Volume
378
Numéro
17
Pages
1604-1610
Langue
anglais
Résumé
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.).
Mots-clé
Adult, Amniotic Fluid, Antigens, CD/therapeutic use, Ectodermal Dysplasia 1, Anhidrotic/diagnostic imaging, Ectodermal Dysplasia 1, Anhidrotic/genetics, Ectodermal Dysplasia 1, Anhidrotic/therapy, Ectodysplasins/deficiency, Ectodysplasins/genetics, Ectodysplasins/therapeutic use, Female, Fetal Therapies/methods, Genetic Therapy/methods, Humans, Injections, Male, Mutation, Pregnancy, Prenatal Diagnosis, Radiography, Receptors, Fc/therapeutic use, Recombinant Proteins/therapeutic use, Sweat Glands/abnormalities, Sweat Glands/diagnostic imaging, Tooth Germ/diagnostic imaging
Pubmed
Web of science
Open Access
Oui
Création de la notice
26/04/2018 16:29
Dernière modification de la notice
20/08/2019 14:38
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