The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Human Inborn Errors of Immunity: 2019 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/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.
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BRUTON, O. C. (1952) · Pediatrics · doi:10.1542/peds.9.6.722 · Cited by 1,492
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
Boutboul, D., Kuehn, H. S., Van de Wyngaert, Z., Niemela, J. E., Callebaut, I., Stoddard, J., Lenoir, C., Barlogis, V., Farnarier, C., Vely, F., et al. (2018) · Journal of Clinical Investigation · doi:10.1172/jci98164 · Cited by 169
Self-citationKapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.08.019 · Cited by 123
Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects
Hsu, A. P., Donkó, A., Arrington, M. E., Swamydas, M., Fink, D., Das, A., Escobedo, O., Bonagura, V., Szabolcs, P., Steinberg, H. N., et al. (2019) · Blood · doi:10.1182/blood-2018-11-886028 · Cited by 92
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
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Self-citationTangye, S. G., Al-Herz, W., Bousfiha, A., Cunningham-Rundles, C., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Oksenhendler, E., Picard, C., et al. (2021) · Journal of Clinical Immunology · doi:10.1007/s10875-021-00980-1 · Cited by 214
Self-citationChronic Granulomatous Disease: a Comprehensive Review
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Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death
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Metadata
- Authors
- Tangye, S. G., Al-Herz, W., Bousfiha, A., Chatila, T., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Ochs, H. D., Oksenhendler, E., Picard, C., Puck, J., Torgerson, T. R., Casanova, J.-L., & Sullivan, K. E.
- Venue
- Journal of Clinical Immunology
- Published
- 2020-01
- Volume
- 40
- Issue
- 1
- Pages
- 24-64
- ISSN
- 0271-9142 (ISSN-L)
- 1573-2592
- OpenAlex
- W3000301584
- Cited by
- 1,210
- References
- 4
- FWCI
- 71.97
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Tangye, S. G., Al-Herz, W., Bousfiha, A., Chatila, T., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Ochs, H. D., Oksenhendler, E., Picard, C., Puck, J., Torgerson, T. R., Casanova, J.-L., & Sullivan, K. E. (2020). Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. Journal of Clinical Immunology. https://doi.org/10.1007/s10875-019-00737-x
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
