The DOI matches its Crossref record; 111 of the 111 references it cites were found in a registry or an index.
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
Open accessAbstract
We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 phenocopy due to autoantibodies, that have either been discovered since the previous update (published January 2020) or were characterized earlier but have since been confirmed or expanded in subsequent studies. While variants in additional genes associated with immune diseases have been reported in the literature, this update includes only those that the committee assessed that reached the necessary threshold to represent novel inborn errors of immunity. There are now a total of 485 inborn errors of immunity. These advances in discovering the genetic causes of human immune diseases continue to significantly further our understanding of molecular, cellular, and immunological mechanisms of disease pathogenesis, thereby simultaneously enhancing immunological knowledge and improving patient diagnosis and management. This report is designed to serve as a resource for immunologists and geneticists pursuing the molecular diagnosis of individuals with heritable immunological disorders and for the scientific dissection of cellular and molecular mechanisms underlying monogenic and related human immune diseases.
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Cites
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science · doi:10.1126/science.abd4585 · Cited by 2,662
Self-citationInborn errors of type I IFN immunity in patients with life-threatening COVID-19
Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., Ogishi, M., Sabli, I. K. D., Hodeib, S., Korol, C., et al. (2020) · Science · doi:10.1126/science.abd4570 · Cited by 2,229
Self-citationTangye, S. G., Al-Herz, W., Bousfiha, A., Chatila, T., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Holland, S. M., Klein, C., Morio, T., et al. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-019-00737-x · Cited by 1,210
Self-citationSomatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
Beck, D. B., Ferrada, M. A., Sikora, K. A., Ombrello, A. K., Collins, J. C., Pei, W., Balanda, N., Ross, D. L., Ospina Cardona, D., Wu, Z., et al. (2020) · New England Journal of Medicine · doi:10.1056/nejmoa2026834 · Cited by 1,206
Picard, C., Bobby Gaspar, H., Al-Herz, W., Bousfiha, A., Casanova, J.-L., Chatila, T., Crow, Y. J., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., et al. (2018) · Journal of Clinical Immunology · doi:10.1007/s10875-017-0464-9 · Cited by 795
Self-citationPresence of Genetic Variants Among Young Men With Severe COVID-19
van der Made, C. I., Simons, A., Schuurs-Hoeijmakers, J., van den Heuvel, G., Mantere, T., Kersten, S., van Deuren, R. C., Steehouwer, M., van Reijmersdal, S. V., Jaeger, M., et al. (2020) · JAMA · doi:10.1001/jama.2020.13719 · Cited by 789
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
Bousfiha, A., Jeddane, L., Picard, C., Al-Herz, W., Ailal, F., Chatila, T., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Holland, S. M., et al. (2020) · Journal of Clinical Immunology · doi:10.1007/s10875-020-00758-x · Cited by 679
Self-citationBastard, P., Gervais, A., Le Voyer, T., Rosain, J., Philippot, Q., Manry, J., Michailidis, E., Hoffmann, H.-H., Eto, S., Garcia-Prat, M., et al. (2021) · Science Immunology · doi:10.1126/sciimmunol.abl4340 · Cited by 610
Self-citationThe 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
Bousfiha, A., Jeddane, L., Picard, C., Ailal, F., Bobby Gaspar, H., Al-Herz, W., Chatila, T., Crow, Y. J., Cunningham-Rundles, C., Etzioni, A., et al. (2018) · Journal of Clinical Immunology · doi:10.1007/s10875-017-0465-8 · Cited by 519
Self-citationDiseases caused by mutations in ORAI1 and STIM1
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Cited by
Poli, M. C., Aksentijevich, I., Bousfiha, A. A., Cunningham-Rundles, C., Hambleton, S., Klein, C., Morio, T., Picard, C., Puel, A., Rezaei, N., et al. (2025) · Journal of Human Immunity · doi:10.70962/jhi.20250003 · Cited by 341
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Metadata
- Authors
- 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.
- Venue
- Journal of Clinical Immunology
- Published
- 2022-06-24
- Volume
- 42
- Issue
- 7
- Pages
- 1473-1507
- ISSN
- 0271-9142 (ISSN-L)
- 1573-2592
- OpenAlex
- W4283363193
- Cited by
- 1,156
- References
- 111
- FWCI
- 77.53
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- CoChat. (2026). Citation check: Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. https://app.cochat.ai/papers/10.1007/s10875-022-01289-3
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- 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
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