Infantile Systemic Inflammatory Disease Associated with a De Novo POMP Intragenic Deletion
1. Abstract Proteasome maturation protein (POMP), encoded by POMP, is a protein that functions as a chaperone for proteosome maturation. Pathogenic variants in POMP, are associated with the Proteasome- Associated-Autoinflammatory Syndrome (PRAAS), Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome, POMP-related autoinflammation and immune dysregulation disease (PRAID), and chronic atypical neutrophilic dermatosis with […]