Abstract
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.).
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amniotic Fluid
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Antigens, CD / therapeutic use*
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Ectodermal Dysplasia 1, Anhidrotic / diagnostic imaging
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Ectodermal Dysplasia 1, Anhidrotic / genetics
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Ectodermal Dysplasia 1, Anhidrotic / therapy*
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Ectodysplasins / deficiency
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Ectodysplasins / genetics*
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Ectodysplasins / therapeutic use*
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Female
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Fetal Therapies / methods*
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Genetic Therapy / methods*
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Humans
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Immunoglobulin Fc Fragments / therapeutic use*
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Injections
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Male
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Mutation
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Pregnancy
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Prenatal Diagnosis*
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Radiography
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Receptors, Fc / therapeutic use*
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Recombinant Fusion Proteins / therapeutic use*
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Recombinant Proteins / therapeutic use
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Sweat Glands / abnormalities
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Sweat Glands / diagnostic imaging
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Tooth Germ / diagnostic imaging
Substances
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Antigens, CD
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Ectodysplasins
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Fc(alpha) receptor
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Fc-EDA
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Immunoglobulin Fc Fragments
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Receptors, Fc
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Recombinant Fusion Proteins
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Recombinant Proteins