Visualize Submit Comment

Metadata
ID	DOID:0060916
Name	proteasome-associated autoinflammatory syndrome 3
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/
Xrefs	MIM:617591
Synonyms	PRAAS3 [EXACT]
Parent Relationships	is_a digenic disease is_a autosomal recessive disease is_a proteosome-associated autoinflammatory syndrome
Subclass Logical Relationships	has material basis in some digenic inheritance has material basis in some autosomal recessive inheritance