Litcius/Paper detail

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 Schuurs-Hoeijmakers, Tuomo Mantere, Rick Essers, Masoud Zamani Esteki, A. Avital, Peh Sun Loo, Annet Simons, Rolph Pfundt, Adilia Warris, Marieke M.B. Seyger, Frank L. van de Veerdonk, Mihai G. Netea, Mary Slatter, Terry Flood, Andrew R. Gennery, Amos J. Simon, Atar Lev, Shirley Frizinsky, Ortal Barel, Mirjam van der Burg, Raz Somech, Sophie Hambleton, Stefanie Henriet, Alexander Hoischen

2024The American Journal of Human Genetics23 citationsDOIOpen Access PDF

Topics & Concepts

Severe combined immunodeficiencyBiologyMissense mutationImmunologyHypogammaglobulinemiaCompound heterozygosityCD8Primary immunodeficiencyImmunodeficiencyPhenotypeMedicineGeneticsImmune systemAntibodyGeneImmunodeficiency and Autoimmune DisordersUbiquitin and proteasome pathwaysPeptidase Inhibition and Analysis