Litcius/Paper detail

Monoallelic expression can govern penetrance of inborn errors of immunity

O’Jay Stewart, Conor Gruber, Haley E. Randolph, Roosheel S. Patel, Meredith Ramba, Enrica Calzoni, Lei Huang, Jay A. Levy, Sofija Buta, Angelica E. Lee, Christos Sazeides, Zoe Prue, David P. Hoytema van Konijnenburg, Iván K. Chinn, Luis Alberto Pedroza, James R. Lupski, Erica G. Schmitt, Megan A. Cooper, Anne Puel, Xiao Peng, Stéphanie Boisson‐Dupuis, Jacinta Bustamante, Satoshi Okada, Marta Martín-Fernández, Jordan S. Orange, Jean-Laurent Casanova, Joshua D. Milner, Dusan Bogunovic

2025Nature72 citationsDOIOpen Access PDF

Topics & Concepts

PenetranceAlleleGeneticsBiologyPhenotypeGeneMutationGenotypeImmunodeficiency and Autoimmune DisordersImmune Cell Function and InteractionT-cell and B-cell Immunology