proteasome-associated autoinflammatory syndrome 3

Term ID

DOID:0060916

Synonyms

• 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. https://pubmed.ncbi.nlm.nih.gov/26524591/

References

• OMIM:617591

Ontology

Human Disease   ( DOID:0060916 )