<?xml version='1.0' encoding='UTF-8'?><xml><records><record><source-app name="HighWire" version="7.x">Drupal-HighWire</source-app><ref-type name="Journal Article">17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Güngörer, Vildan</style></author><author><style face="normal" font="default" size="100%">Çelik, İlknur Külhaş</style></author><author><style face="normal" font="default" size="100%">Artaç, Hasibe</style></author><author><style face="normal" font="default" size="100%">Acar, Banu Çelikel</style></author></authors><secondary-authors></secondary-authors></contributors><titles><title><style face="normal" font="default" size="100%">OTULIN-Related Autoinflammatory Syndrome With a Novel Mutation Treated With Tumor Necrosis Factor Inhibitor Therapy: A Rare Case Report</style></title><secondary-title><style face="normal" font="default" size="100%">The Journal of Rheumatology</style></secondary-title></titles><dates><year><style  face="normal" font="default" size="100%">2025</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2025-10-01 00:00:00</style></date></pub-dates></dates><pages><style  face="normal" font="default" size="100%">1061-1064</style></pages><doi><style  face="normal" font="default" size="100%">10.3899/jrheum.2024-1141</style></doi><volume><style face="normal" font="default" size="100%">52</style></volume><issue><style face="normal" font="default" size="100%">10</style></issue><abstract><style  face="normal" font="default" size="100%">To the Editor:Ubiquitylation, a posttranslational modification, is one of the key mechanisms regulating cellular homeostasis in the innate immune system. OTULIN is a deubiquitinase that prevents the accumulation of linear ubiquitin chains in the cell. OTULIN deficiency causes OTULIN-related autoinflammatory syndrome (ORAS), also known as otulipenia, an autosomal recessive disease characterized by uncontrolled inflammation. Defects in OTULIN activity result in hyperubiquitylation and inflammation due to increased activity of the nuclear factor-κB (NF-κB) pathway. At the molecular level, OTULIN-deficient humans and mice have been shown to exhibit increased levels of linear ubiquitin chains following increased tumor necrosis factor (TNF) receptor 1 (TNFR1) signaling and TNF stimulation compared to control cells. Therefore, OTULIN is considered crucial for preventing TNF-associated systemic inflammation.1All variants previously reported to be associated with ORAS were biallelic loss of function; however, in recent years, heterozygous deleterious variants causing OTULIN deficiency via haploinsufficiency have been observed to be associated with susceptibility to Staphylococcus species in skin fibroblasts, causing severe skin or pulmonary necrosis.1-7 Further, Davidson et al and Takeda et al reported that dominant negative heterozygous variants in OTULIN cause ORAS.8,9Here, we present the 10th patient with autosomal recessive ORAS in the literature with a novel mutation …</style></abstract></record></records></xml>