OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition

AbstractHere, we describe an adult female with severe fasciitis and skin necrosis who carried a private, predicted deleterious missense mutation inOTULIN in heterozygosity. OTULIN is a cellular regulator of deubiquitination that has been shown to play a key role in intrinsic immunity against staphylococcal α-toxin. The patient was treated with broad-spectrum antibiotics, and multiple surgical explorations were conducted without clinical response. Since autoinflammation was the predominant clinical feature, TNF inhibition was started with a good clinical response. We show that excessive inflammation i n OTULIN haploinsufficiency can be effectively treated by TNF inhibition.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research