vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic mutation(English)

• an acquired syndrome with rheumatologic and hematologic features caused by somatic variants in UBA1. Pathogenic variants are associated with a broad spectrum of clinical manifestations. Knowledge of prevalence, penetrance, and clinical characteristics of this disease have been limited by ascertainment biases based on known phenotypes
• Enzymes, Hematology, Rheumatology, Immunology
• https://doi.org…jama.2022.24836