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Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
Open accessAbstract
We report the updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition, we have added a table of acquired defects that are phenocopies of PIDs. For each disorder, the key clinical and laboratory features are provided. This classification is the most up-to-date catalog of all known PIDs and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.
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Citations
Cited by
International Consensus Document (ICON): Common Variable Immunodeficiency Disorders
Bonilla, F. A., Barlan, I., Chapel, H., Costa-Carvalho, B. T., Cunningham-Rundles, C., de la Morena, M. T., Espinosa-Rosales, F. J., Hammarström, L., Nonoyama, S., Quinti, I., et al. (2016) · The Journal of Allergy and Clinical Immunology: In Practice · doi:10.1016/j.jaip.2015.07.025 · Cited by 872
Self-citationPI3Kδ and primary immunodeficiencies
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-citationA missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
Jabara, H. H., Boyden, S. E., Chou, J., Ramesh, N., Massaad, M. J., Benson, H., Bainter, W., Fraulino, D., Rahimov, F., Sieff, C., et al. (2016) · Nature Genetics · doi:10.1038/ng.3465 · Cited by 279
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Metadata
- Authors
- Al-Herz, W., Bousfiha, A., Casanova, J.-L., Chatila, T., Conley, M. E., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Gaspar, H. B., Holland, S. M., Klein, C., Nonoyama, S., Ochs, H. D., Oksenhendler, E., Picard, C., Puck, J. M., Sullivan, K., & Tang, M. L. K.
- Venue
- Frontiers in Immunology
- Publisher
- Frontiers Media SA
- Published
- 2014-04-22
- Volume
- 5
- Pages
- 162-162
- ISSN
- 1664-3224 (ISSN-L)
- OpenAlex
- W2131200545
- Cited by
- 748
- References
- 0
- FWCI
- 59.39
- Type
- journal article
- Language
- en
- Open access
- gold
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- CoChat. (2026). Citation check: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. https://app.cochat.ai/papers/10.3389/fimmu.2014.00162
- The paper
- Al-Herz, W., Bousfiha, A., Casanova, J.-L., Chatila, T., Conley, M. E., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Gaspar, H. B., Holland, S. M., Klein, C., Nonoyama, S., Ochs, H. D., Oksenhendler, E., Picard, C., Puck, J. M., Sullivan, K., & Tang, M. L. K. (2014). Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Frontiers in Immunology. https://doi.org/10.3389/fimmu.2014.00162
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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