Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib

November 2020 in “ Acta Dermato Venereologica ”

Xiaodong Li, Xiru Wu, Dirk M. Elston, Jun Zhang, Cheng Zhou

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Research cited in this study

2 / 2 results

research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies

9 citations , March 2015 in “International reviews of immunology”

Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.

research Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia

35 citations , April 2014 in “American Journal of Medical Genetics”

Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.

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research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia

1 citations , November 2017 in “Expert opinion on orphan drugs”

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.