Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.

de Jesus, Adriana A

Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. [electronic resource] - The Journal of allergy and clinical immunology 05 2019 - 1939-1943.e8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

1097-6825

10.1016/j.jaci.2018.12.1012 doi


Chaperonins--genetics
Child
Female
Humans
Immunologic Deficiency Syndromes--genetics
Interferons
Molecular Chaperones--genetics
Mutation
Proteasome Endopeptidase Complex--genetics