Human Inborn Errors of Immunity

Last update: 2022-06-25

This table is a modified version of that released by the International Union of Immunological Societies (IUIS) Inborn Errors of Immunity Committee (IEI) (https://iuis.org), (Tangye et al., 2022). Read the paper here: doi.org/10.1007/s10875-022-01289-3 and directly download their original xlsx table from Springer here: Supplementary file2 (XLSX 93 kb). Additional hyperlinks to external websites have been added along with cleaning and standardisation for filtering "Inheritance" terms. Many thanks to the committee for releasing their invaluable updates every year.

Accurately report your finding

⚡ ACMG standards and guidelines: for the interpretation of variants.

⚡ Use accurate HGVS variant nomenclature: for precise clinical genetics.

⚡ Use accurate HGNC gene names: for precise clinical genetics.

⚡ Find other genes: outside of IUIS IEI genes.

⚡ Coming soon: summarise all diagnostic evidence sources.

IUIS IEI table

Autosomal dominant (AD) autosomal recessive (AR), gain-of-function (GOF), loss of function (LOF), X-linked recessive (XLR).

Older versions - The 2020 edition can be found on IUIS website: https://iuis.org. Original 2020 table download link: Updated IEI classification table (December, 2019).

1. Tangye, S. G., Al-Herz, W., Bousfiha, A., Cunningham-Rundles, C., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Oksenhendler, E., Picard, C., Puel, A., Puck, J., Seppänen, M. R. J., Somech, R., Su, H. C., Sullivan, K. E., Torgerson, T. R., & Meyts, I. (2022). Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. Journal of Clinical Immunology. https://doi.org/10.1007/s10875-022-01289-3