Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Level 5 - mechanism / opinion, no new human data
Expert committee consensus classification update without primary empirical data.
PubMed 35748970 · doi:10.1007/s10875-022-01289-3
What was done
An expert committee from the International Union of Immunological Societies updated the classification of inborn errors of immunity, reviewing reported monogenic gene defects and phenocopies discovered or confirmed since the previous January 2020 update. Candidate gene variants were included only if they met the committee's threshold for novel inborn errors of immunity.
What was found
The committee documented 55 novel monogenic gene defects and 1 phenocopy due to autoantibodies discovered or expanded since January 2020. The total number of classified inborn errors of immunity reached 485.
Why it matters
This update provides a standardized diagnostic catalog for geneticists and immunologists to assist in molecular diagnosis and clinical management of heritable immune disorders.
Limits
The report is an expert committee consensus classification rather than a primary empirical study or systematic review. The abstract does not provide the specific evaluation criteria used to reach consensus or the number of candidate gene variants that failed to meet the inclusion threshold.
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.