Trends Immunol. 2025 Mar 12:S1471-4906(25)00032-8. doi: 10.1016/j.it.2025.02.005. Online ahead of print.
ABSTRACT
Patients with an inborn error of immunity (IEI) often show a complete penetrance of their disease-causing mutation, whereas other forms of IEI show a family pattern where many family members carrying the same mutation remain unaffected. The underlying mechanism, differential allele-specific expression, was recently and elegantly demonstrated by Stewart et al.
PMID:40082159 | DOI:10.1016/j.it.2025.02.005