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
Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.
Kuehn HS et al.
The Journal of Allergy and Clinical Immunology, 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
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Hebert A et al.
Elife, 2022
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
Lev A et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2022
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