Expanding the PRAAS Spectrum: De Novo Mutations of Immunoproteasome Subunit Β-Type 10 in Six Infants with SCID-Omenn Syndrome
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,Masoud Zamani Esteki,Amir L. Avital, Peh Sun Loo,Annet Simons,Rolph Pfundt,Adilia Warris,Marieke M. Seyger,Frank L. van de Veerdonk, Mihai G. Netea,Mary A. Slatter,Terry Flood,Andrew R. Gennery,Amos J. Simon,Atar Lev, Shirley Frizinsky,Ortal Barel, Mirjam van der Burg,Raz Somech,Sophie Hambleton,Stefanie S. V. Henriet,Alexander Hoischen AMERICAN JOURNAL OF HUMAN GENETICS（2024）
Key words
severe combined immune deficiency,Omenn syndrome,PSMB10,immunoproteasome,revertant somatic mosaicism,uniparental disomy
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