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Article

Monoallelic expression can govern penetrance of inborn errors of immunity.

Nature - 1 Jan 2025

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

Abstract excerpt

Inborn errors of immunity (IEIs) are genetic disorders that underlie susceptibility to infection, autoimmunity, autoinflammation, allergy and/or malignancy1. Incomplete penetrance is common among IEIs despite their monogenic basis2. Here we investigate the contribution of autosomal random monoallelic expression (aRMAE), a somatic commitment to the expression of one allele3,4, to phenotypic variability observed in...

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Identifiers

PMID: 39743591
DOI: 10.1038/s41586-024-08346-4
PMCID: PMC11804961

Genes

JAK1
CARD11
PLCG2
STAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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