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Best part of the VEXAS project from the science perspective is the collaborations! Rheum + Heme is an amazing confluence of interests.

👆🏼#VEXAS syndrome is believed to only affect individuals above the age of 50. 😮We describe an early-onset case in a 23 y/o 🙎🏽‍♂️ with relapsing polychondritis. 🗝️Test for UBA1 mutations🧬, regardless of age, in adults with a VEXAS clinical phenotype. Dra. Pataki Rheumatology & Rheumatology Advances in Practice

Family talking this morning about the “speaker of the house” being removed. Five year old looked concerned and nervously asked, “Alexa?” 🤣🤣🤣

Marcela Ferrada is an inspiration. She was driven to improve outcomes for relapsing polychondritis, the disease she lives with, & now she leads her field. Truly the model of a patient-physician, always so much to learn from her. #ACR23 Review Course Dr. John Cush R Polychondritis

Everyone at #ACR23 be sure and tune in to Atefeh Ghorbanzadeh’s talk this Wed showcasing our @nih_nhlbi Mayo Clinic NIAMS collaboration reporting on the high rates of thrombosis (mainly #VTE) seen in our #VEXAS cohort. acr23.eventscribe.net/searchGlobal.a…

#ACR23 check out Robert Corty's late breaking poster tomorrow - he has identified individuals with somatic UBA1 mutations who are resilient to VEXAS cdmcd.co/vabX8j Full details in his preprint: medrxiv.org/content/10.110… American College of Rheumatology @VUMCRheum Vanderbilt PSTP/Harrison Society

First ever non-HLA germline genetic association identified in RP. Masters thesis work from Yiming Luo from our group at NIH. Relapsing Polychondritis Foundation Marcela Ferrada Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study ard.bmj.com/content/early/…

#ACR23 need to find better way to incentivize attendance on the last half day of ACR Convergence. Turnout again pretty abysmal. Not fair to presenters of some very nice work today. End on full day or do something big at the very end.

Population databases have shown very different findings related to VEXAS, reflecting selection bias. In AllofUs, 74 people with VEXAS mutations, 62 of them were female, 100% were p.Met41Leu, unclear if they have any disease phenotype. Terrific work led by Robert Corty !!!

UBA1 somatic mutations of indeterminate potential? our provocative finding in AllofUsResearch led by Robert Corty with James Brogan, Kevin Byram, MD & Peter Grayson Vanderbilt PSTP/Harrison Society, @VUMCRheum NIAMS

Many thanks to our French colleagues for hosting the first international VEXAS Congress in Paris. The only thing that was better than the science was the friendship. We had the best time with you! Sophie Georgin-Lavialle Benjamin Terrier Arsene Mekinian Bhavisha Patel Emma M. Groarke Marcela Ferrada

A look back at the first workshop on #VEXAS syndrome! > 100 participants from 19 countries came in Paris. Thanks to the support of Filière de santé FAI²R. Benjamin Terrier Arsene Mekinian Peter Grayson Marcela Ferrada Kosmider olivier _ERNRITA Rim Bourguiba Ciprian Jurcut

News: Skin manifestations in VEXAS syndrome are common and provide an important early clue to the diagnosis of this life-threatening disease. Read the full NIAMS-led study via JAMA Dermatology 🔒. Abstract: jamanetwork.com/journals/jamad…