proteosome-associated autoinflammatory syndrome 5

Term ID

DOID:0060919

Synonyms

• PRAAS5

Definition

A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. https://pubmed.ncbi.nlm.nih.gov/31783057/

References

• MIM:619175

Ontology

Human Disease   ( DOID:0060919 )