proteosome-associated autoinflammatory syndrome 2 (DOID:0060914)
Alliance: disease page
Synonyms: PRAAS2
Alt IDs: OMIM:618048
Definition: A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12.