Clinical phenotype,

The aim of this study was to characterize the phenotype and genotype of patients with Yao syndrome (YAOS), with focus on comparing to prior cohorts, identifying novel features, and describing treatment observations. A retrospective medical records review of patients with YAOS seen at Mayo Clinic was conducted to characterize clinical features, Twenty-two patients diagnosed with YAOS were included. Eighteen patients (81.8%) were female and twenty (90.9%) were White. Mean age at symptom onset was 24.0 ± 14.8 years. Common clinical manifestations included fever (81.8% of patients), rash (95.5%), chronic gastrointestinal symptoms (100%), arthralgia/arthritis (95.5%), and sicca symptoms (68.2%). Our findings substantiate the occurrence of fevers, arthralgia/arthritis, rash, chronic gastrointestinal symptoms, and sicca-like symptoms described previously in patients with YAOS. Novel clinical features and one

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Copyright © 2024 Williamson, Samec, Patel, Orandi, Wang, Crowson, Loftus, Alavi, Moyer and Davis.

Déclaration de conflit d'intérêts

EL is a consultant for AbbVie, Alvotech, Amgen, Arena, Avalo, Boehringer Ingelheim, Bristol-Myers Squibb, Celltrion Healthcare, Eli Lilly, Fresenius Kabi, Genentech, Gilead, GlaxoSmithKline, Gossamer Bio, Iota Biosciences, Iterative Health, Janssen, Morphic, Ono, Protagonist, Sun, Surrozen, Takeda, and UCB. He has research support from AbbVie, AstraZeneca, Bristol-Myers Squibb, Celgene/Receptos, Janssen, Takeda, Theravance, and UCB. He is a shareowner of Exact Sciences. AA is a consultant for Abbvie, Boehringer Ingelheim, InflaRx, Incyte, Novartis, and UCB. She is a board member of the Hidradenitis Suppurativa foundation and principal investigator for Processa and Boehringer Ingelheim. JD has research support from Pfizer and has technology licensing agreements with Girihlet and Remission Medical. He has provisional U.S. patent application no. 63/243,933 entitled, “Methods and Materials for Assessing and Treating Arthritis,” which has been licensed to NLC Ventures. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.