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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 […]

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