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Boisson, B., Laplantine, E., Dobbs, K., Cobat, A., Tarantino, N., Hazen, M., et al. (2015) Human HOIP and LUBAC Deficiency Underlies Autoinflammation, Immunodeficiency, Amylopectinosis, and Lymphangiectasia. Journal of Experimental Medicine, 212, 939-951. https://doi.org/10.1084/jem.20141130

has been cited by the following article:

• TITLE: Atopic Dermatitis Related to RNF31 Genetic Variant

  AUTHORS: César Daniel Alonso-Bello, Sonia del Carmen Chávez-Ocaña, Carol Vivian Moncayo-Coello, María Isabel Rojo-Gutierrez

  KEYWORDS: Atopic Dermatitis, Genetics Variant, Skin Disease, Keratinocytes

  JOURNAL NAME: Open Access Library Journal, Vol.10 No.7, July 21, 2023

  ABSTRACT: Atopic dermatitis is a chronic and inflammatory skin disease and the most severe forms could strongly impact the patient’s quality of life. Skin barrier dysfunction is considered the first step in the atopic march. RNF31 deficiency significantly changes the skin structure and increases its thickness. The keratinocytes show decreased expression of K10 and loricrin. In this way, RNF31 deficiency alters the proper functioning of the skin by altering the homeostasis of keratinocytes. We present the case of a 2-year-old boy diagnosed with severe atopic dermatitis, with impaired quality of life due to a genetic variant related to keratinocyte function that has not been previously reported in humans with atopic dermatitis.