Pleased to see our work looking at the impact of cytokine derived therapies / steroids on hematologic progression in #VEXAS led by Benjamin Turturice Peter Grayson now published in Annals of the Rheumatic Diseases. sciencedirect.com/science/articl… Bhavisha Patel Fernanda Gutierrez-Rodrigues Neal S Young M.D.

New study from Erica Schmitt, Megan Cooper et al. WashU Medicine describes a patient with a predominantly neurological phenotype, who was found to have a mosaic STAT5B gain-of-function variant and was successfully treated with HCT. hubs.la/Q03wghfs0 #Autoimmunity

A recent study using #autoantibody reactome analysis revealed the presence of 2 distinct molecular subtypes in relapsing #polychondritis (RP): ◦ Subtype 1 RP (primarily driven by #humoral immunity): patients with a marked increase in autoantibody levels, accompanied by a higher

Clonal hematopoiesis (CH) is when blood cells carry mutations. It’s common with age—and sometimes a warning sign for cancer. But not all CH is equal. Why do some people progress, and others don’t? Check out Kelly Bolton MD PhD’s excellent thread and our paper here Nature Genetics 👇

Clonal haematopoiesis to clonal cytopenias: unravelling disease evolut... sciencedirect.com/science/articl… The Lancet Haematology Kristina Kirschner Yael Kusne Catherine Cargo #CH #CCUS #Agerelated #Contextrelevant Mayo Clinic Comprehensive Cancer Center Mayo Clinic

Tobin and Cooper review #InbornErrorsOfImmunity that can present with rheumatologic and #autoimmune complications and the role of genetic testing for establishing a molecular diagnosis & devising personalized treatment plans to improve patient outcomes. hubs.la/Q03yv0n00

Anti-PF4 disorders: Pathogenesis, diagnosis and treatment buff.ly/hlPEh30

Analysis of whole-exome seq data from MyCode & BioMe biobanks investigated assoc between UBA1 VAF and VEXAS disease manif. Results showed ↑VAF resulted in more severe disease & higher penetrance, while ↓VAF had incomplete penetrance & milder disease A&R doi.org/10.1002/art.43…

I am excited to share our latest paper on the potential association between monoclonal gammopathy and ANCA negative vasculitis. Monoclonal testing should be considered in ANCA negative patients. maria jose vargas fernando fervenza journals.lww.com/kidney360/abst…

Longitudinal variant allele freq (VAF) trends in CAPS pts w/ somatic mosaicism showed, in early-onset, mutations were uniform across tissues & remained stable over time, while in late-onset cases, VAFs were ↑ & largely confined to myeloid lineage A&R doi.org/10.1002/art.43…

Impaired cytotoxic function and exhausted phenotype of natural killer cells in VEXAS syndrome Congrats Paul Breillat Benjamin Terrier Kosmider olivier ashpublications.org/blood/article-…

Thrilled to share our latest RCT in #EGPA comparing Rituximab Versus Conventional Therapy for Remission Induction, and published in ⁦Annals of Int Med⁩ - Thanks to all the amazing French Vasculitis Study Group 🙏🙏🙏 acpjournals.org/doi/10.7326/AN…

Thrilled to share our latest research on impaired cytotoxic function and exhausted phenotype of NK cells in #VEXAS, with ⁦Paul Breillat⁩ Kosmider olivier and others, in ⁦Blood Journals Portfolio⁩, and supported by ⁦IMMUNOV⁩ ⁦Fondation pour la Recherche Médicale⁩ ashpublications.org/blood/article/…

Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN1bK0

New in Journal of Experimental Medicine: Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN5pk0

A recently published systematic review evaluated all the available clinical evidence on the use of CAR T-cell therapy in patients with systemic #lupus erythematosus (16 studies encompassing 145 participants): ◦ Mean baseline SLEDAI decreased from 13.1 to 2.3 after 6 months, and

Excited to see these finally published! American College of Rheumatology guidance statement for diagnosis and management of #VEXAS. A major international effort! acrjournals.onlinelibrary.wiley.com/doi/10.1002/ar…

Published today. Our review on Incomplete Penetrance. Four governing principles. Details here. 👇🏼Columbia University Columbia Children's Health Columbia Genetics and Development Department rupress.org/jhi/article/1/…

The urinary soluble #CD163 normalized to creatinuria (usCD163/Cre) is a promising and sensitive biomarker for active #lupus #nephritis (LN), as demonstrated by a study that assessed the association of usCD163/Cre with pathological features, LN flares, and one-year response to

A 79 y/o man with an 8-month history of VEXAS, with myelodysplastic syndrome, presented with acute-onset fever, bilateral anterior nodular scleritis, and a pustular skin rash. Exam showed large, widespread, non-follicular pustules Clinical images in A&R doi.org/10.1002/art.43…