Heterozygous OTULIN-variant related fasciitis and skin necrosis treated by TNF inhibition.

Abstract

Abstract Here we describe an adult female with severe fasciitis and skin necrosis who carried a private, predicted deleterious missense mutation in OTULIN in heterozygozity. 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 for the first time that excessive inflammation in autosomal dominant OTULIN deficiency can be effectively treated by TNF inhibition.