Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

This study highlights the identification of recurrent heterozygous de novo mutations in immunoproteasome subunit β2i (PSMB10) as a cause for SCID-Omenn syndrome. These variants are predicted to profoundly disrupt immunoproteasome structure and function, emphasizing its importance for lymphocyte development. Pathogenic variants in PSMB10 should be sought in SCID newborn screening.

Source: The American Journal of Human Genetics - March 18, 2024 Category: Genetics & Stem Cells Authors: Caspar I. van der Made, Simone Kersten, Odelia Chorin, Karin R. Engelhardt, Gayatri Ramakrishnan, Helen Griffin, Ina Schim van der Loeff, Hanka Venselaar, Annick Raas Rothschild, Meirav Segev, Janneke H.M. Schuurs-Hoeijmakers, Tuomo Mantere, Rick Essers, Tags: Report Source Type: research