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proteasome-associated autoinflammatory syndrome 3
Summary
- Synonym
-
- PRAAS3
- Definition
- A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21.
- Super Class
- autosomal recessive disease digenic disease proteosome-associated autoinflammatory syndrome
External Links
- Disease Ontology
- DOID:0060916
- Mondo Disease Ontology
- OMIM
