Japanese Autoinflammatory Syndrome with Lipodystrophy (JASL) belongs to the proteasome-associated autoinflammatory syndrome (PRAAS). It clinically overlaps with Nakajo Nishimura Syndrome.
Location: 6p21.32
Gene affected: PSMB8
Protein: beta5i proteasome subunit
Mutation: missense (the type of mutation affects the clinical expression in PRAAS)
Inheritance: autosomal recessive
Key features:
(1) onset during infancy or early childhood
(2) recurrent high fever (> 40°C)
(3) nodular erythema over the entire body
(4) muscle weakness
(5) hand deformities
(6) frostbitten hands if exposed to cold
(7) onset of partial lipodystrophy between 6 and 12 years of age on the face, fingers and upper extremities
A skin biopsy shows an infiltrate in the dermis of neutrophils and lymphocytes.
Laboratory findings:
(1) elevated CRP
(2) elevated IgG and IgA
(3) negative tests for autoantibodies
(4) elevated serum IL-6
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