proteosome-associated autoinflammatory syndrome 4

Term ID

DOID:0060915

Synonyms

• PRAAS4

Definition

A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. https://pubmed.ncbi.nlm.nih.gov/30664889/

References

• OMIM:619183

Ontology

Human Disease   ( DOID:0060915 )