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GTR Home > Conditions/Phenotypes > Proteasome-associated autoinflammatory syndrome 4

Proteasome-associated autoinflammatory syndrome 4

Summary

Proteasome-associated autoinflammatory syndrome-4 (PRAAS4) is an autosomal recessive immunologic disorder characterized by onset of panniculitis and erythematous skin lesions in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development. Autoimmune features, such as hemolytic anemia, may also occur. Laboratory studies show elevation of acute phase reactants and abnormal activation of the type I interferon response. Treatment with the JAK (see 147795) inhibitor ruxolitinib may result in clinical improvement (summary by de Jesus et al., 2019). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLAST3, HCCA3, HsT1707, MDS003, PAC2, PRAAS4, TNFSF5IP1, PSMG2
    Summary: proteasome assembly chaperone 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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