Monoallelic expression can govern penetrance of inborn errors of immunity

Stewart, O., Gruber, C., Randolph, H. E., Patel, R., Ramba, M., Calzoni, E., Huang, L. H., Levy, J., Buta, S., Lee, A., Sazeides, C., Prue, Z., Hoytema van Konijnenburg, D. P., Chinn, I. K., Pedroza, L. A., Lupski, J. R., Schmitt, E. G., Cooper, M. A., Puel, A., … Bogunovic, D. (2025). Monoallelic expression can govern penetrance of inborn errors of immunity. Nature, 637(8048), 1186–1197. https://doi.org/10.1038/s41586-024-08346-4
Authors:
O'Jay Stewart
Conor Gruber
Haley E Randolph
Roosheel Patel
Meredith Ramba
Enrica Calzoni
Lei Haley Huang
Jay Levy
Sofija Buta
Angelica Lee
Christos Sazeides
Zoe Prue
David P Hoytema van Konijnenburg
Ivan K Chinn
Luis A Pedroza
James R Lupski
Erica G Schmitt
Megan A Cooper
Anne Puel
Xiao Peng
Stéphanie Boisson-Dupuis
Jacinta Bustamante
Satoshi Okada
Marta Martin-Fernandez
Jordan S Orange
Jean-Laurent Casanova
Joshua D Milner
Dusan Bogunovic
Affiliated Authors:
O'Jay Stewart
Haley E Randolph
Meredith Ramba
Enrica Calzoni
Lei Haley Huang
Jay Levy
Sofija Buta
Angelica Lee
Christos Sazeides
Zoe Prue
Luis A Pedroza
Marta Martin-Fernandez
Jordan S Orange
Joshua D Milner
Dusan Bogunovic
Subjects:
Penetrance (MeSH)
Alleles (MeSH)
Phenotype (MeSH)
Publication Type:
Article
Unique ID:
10.1038/s41586-024-08346-4
PMID:
Journal:
Publication Date:
Data Source:
PubMed

Record Created: