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Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
Open accessAbstract
We report the updated classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS). In the two years since the previous version, 34 new gene defects are reported in this updated version. For each disorder, the key clinical and laboratory features are provided. In this new version we continue to see the increasing overlap between immunodeficiency, as manifested by infection and/or malignancy, and immune dysregulation, as manifested by auto-inflammation, auto-immunity, and/or allergy. There is also an increased number of genetic defects that lead to susceptibility to specific organisms which reflects the finely tuned nature of immune defense systems. This classification is the most up to date catalogue of all known and published primary immunodeficiencies and acts as a current reference of the knowledge of these conditions and is an important aid for the genetic and molecular diagnosis of patients with these rare diseases.
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Cited by
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Lucas, C. L., Chandra, A., Nejentsev, S., Condliffe, A. M., & Okkenhaug, K. (2016) · Nature Reviews Immunology · doi:10.1038/nri.2016.93 · Cited by 342
Luo, W., Weisel, F., & Shlomchik, M. J. (2018) · Immunity · doi:10.1016/j.immuni.2018.01.008 · Cited by 325
Inborn Errors of Human JAKs and STATs
Casanova, J.-L., Holland, S. M., & Notarangelo, L. D. (2012) · Immunity · doi:10.1016/j.immuni.2012.03.016 · Cited by 320
Self-citationFischer, A., Provot, J., Jais, J.-P., Alcais, A., Mahlaoui, N., Adoue, D., Aladjidi, N., Amoura, Z., Arlet, P., Armari-Alla, C., et al. (2017) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.12.978 · Cited by 319
Self-citationDeschamps, M., Laval, G., Fagny, M., Itan, Y., Abel, L., Casanova, J.-L., Patin, E., & Quintana-Murci, L. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.014 · Cited by 257
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Metadata
- Authors
- Picard, C., Al-Herz, W., Bousfiha, A., Casanova, J.-L., Chatila, T., Conley, M. E., Cunningham-Rundles, C., Etzioni, A., Holland, S. M., Klein, C., Nonoyama, S., Ochs, H. D., Oksenhendler, E., Puck, J. M., Sullivan, K. E., Tang, M. L. K., Franco, J. L., & Gaspar, H. B.
- Venue
- Journal of Clinical Immunology
- Published
- 2015-10-19
- Volume
- 35
- Issue
- 8
- Pages
- 696-726
- ISSN
- 0271-9142 (ISSN-L)
- 1573-2592
- OpenAlex
- W2117403402
- Cited by
- 1,197
- References
- 0
- FWCI
- 86.70
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- The paper
- Picard, C., Al-Herz, W., Bousfiha, A., Casanova, J.-L., Chatila, T., Conley, M. E., Cunningham-Rundles, C., Etzioni, A., Holland, S. M., Klein, C., Nonoyama, S., Ochs, H. D., Oksenhendler, E., Puck, J. M., Sullivan, K. E., Tang, M. L. K., Franco, J. L., & Gaspar, H. B. (2015). Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. Journal of Clinical Immunology. https://doi.org/10.1007/s10875-015-0201-1
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