DO_rare_slim has material basis in proteasome-associated autoinflammatory syndrome 1 A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21. CANDLE ORDO:324999 MIM:256040 disease_ontology GARD:3917 GARD:3916 GARD:10988 DOID:0050553 JMP syndrome JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY NKJO Nakajo-Nishimura syndrome PRAAS1 chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome autosomal recessive disease proteosome-associated autoinflammatory syndrome digenic disease autosomal recessive inheritance digenic inheritance