Inborn errors of immunity

Inborn errors of immunity
SpecialtyClinical immunologist
Usual onsetNewborns, children, and, uncommonly, adults
CausesDefects in specific genes
Diagnostic methodGenetic testing
PrognosisVariable
FrequencyCombined prevalence 1 in 1000 – 1 in 5000

Inborn errors of immunity (IEI) are a heterogenous group of disorders in which a mutation in any one of various genes that regulate the immune system causes increases in the susceptibility of individuals to develop a dysfunction in their immune system. As of 2024, there were 555 IEI conditions described. While each condition is individually rare, when taken together, it is estimated that between 1 in 1000 to 1 in 5000 people have some kind of inborn error of immunity.

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