The impact of genetic immune disorders on infections including COVID-19, inflammatory bowel disease and cancer.
Level 5 - mechanism / opinion, no new human data
Narrative review without systematic methodology or primary data
PubMed 40721512 · doi:10.1038/s41590-025-02225-4
What was done
This narrative review summarizes how over 500 identified inborn errors of immunity (IEIs) shape defective immune function and influence susceptibility to infectious diseases (notably COVID-19), inflammatory bowel disease, and malignancies.
What was found
The abstract reports no empirical data, statistical values, or effect estimates. It notes that over 500 distinct IEIs have been identified worldwide and describes conceptually how molecular and cellular mechanisms underlying these disorders inform human immune physiology and therapeutic development.
Why it matters
Studying rare single-gene immune defects offers critical mechanistic models for dissecting the broader genetic, microbial, and environmental drivers of common infectious, autoimmune, and oncologic diseases.
Limits
As a broad narrative review, the paper does not use systematic review methods, pooling, or meta-analysis. The abstract provides no primary human outcome data, effect sizes, or specific risk estimates.
Cited by
- supports Specific genetic mutations can impair distinct branches of the innate or adaptive immune system, making individuals abnormally vulnerable to specific types or severities of infection.