Associated Papers
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.
Wolfgramm S et al.
Annals of the Rheumatic Diseases, 2025
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.
Poli MC et al.
Journal of Human Immunity, 2025
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI et al.
American Journal of Human Genetics, 2024
Select a paper to view details