Joint Contractures, Muscular Atrophy, Microcytic Anemia and Panniculitis-Associated Lipodystrophy (JMP Syndrome) belongs to the proteasome-associated autoinflammatory syndrome (PRAAS).
Location: 6p21.32
Gene affected: PSMB8
Protein: beta5i proteasome subunit
Inheritance: autosomal recessive
Key features:
(1) joint contractures, especially in hands and feet
(2) muscle atrophy
(3) microcytic anemia
(4) panniculitis-associated lipodystrophy
(5) erythematous skin lesions (associated with panniculitis)
Additional findings:
(1) hypergammaglobulinemia
(2) hepatosplenomegaly
(3) seizures
(4) calcifications in the basal ganglia
(5) elevated serum cytokines (IL-6, IL-8, interferon-gamma)
