POMP-related autoinflammation and immune dysregulation (PRAID) is a disease that manifests in childhood with immune deficiency, autoinflammation, and neutrophilic dermatosis. The disease is caused by heterozygous de novo mutations in the proteasome maturation protein (POMP). POMP is a chaperone protein that aids in the formation of the proteasome unit in cells, which is essential for the breakdown of ubiquitinated proteins; thus, this mutation disrupts the normal functioning of cell proteosomes.
POMP expression is particularly important for the function of immune cells because without protein degradation, antigens cannot be presented on major histocompatibility complex (MHC) class I receptors.
Individuals with PRAID are susceptible to a multitude of viral, bacterial, and fungal infections, including opportunistic organisms such as Pneumocystis jirovecii and mycobacteria, as a result of dysregulated immune functioning.