"In mice, the loss of Sharpin leads to severe dermatitis due to excessive cell death in keratinocytes. Here we report the first patient with SHARPIN deficiency, manifesting fever, arthritis, colitis, chronic otitis media and hepatic glycogenosis but unexpectedly, not associated with dermatologic manifestations."

#Immunology #HumanGenetics #Immunedeficiency #LUBAC #Sharpin

https://www.medrxiv.org/content/10.1101/2022.11.09.22281431v1