proteosome-associated autoinflammatory syndrome 2

Term ID

DOID:0060914

Synonyms

• PRAAS2

Definition

A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. https://pubmed.ncbi.nlm.nih.gov/29805043/

References

• OMIM:618048

Ontology

Human Disease   ( DOID:0060914 )