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Stuart G. Tangye, Waleed Al–Herz, Aziz A. Bousfiha, Charlotte Cunningham‐Rundles, José Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Éric Oksenhendler, Capucine Pïcard and 8 more
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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Tangye, S. G., Al–Herz, W., Bousfiha, A. A., Cunningham‐Rundles, C., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Oksenhendler, É., Pïcard, C., Puel, A., Puck, J. M., 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, 42(7), 1473–1507. https://doi.org/10.1007/s10875-022-01289-3
Tangye, Stuart G., et al. "Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee." Journal of Clinical Immunology, vol. 42, no. 7, 2022, pp. 1473–1507, https://doi.org/10.1007/s10875-022-01289-3.
Tangye, Stuart G., Waleed Al–Herz, Aziz A. Bousfiha, Charlotte Cunningham‐Rundles, José Luis Franco, Steven M. Holland, Christoph Klein, et al. "Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee." Journal of Clinical Immunology 42, no. 7 (2022): 1473–1507. https://doi.org/10.1007/s10875-022-01289-3.
Tangye S. G., Al–Herz W., Bousfiha A. A. [и др.] Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee // Journal of Clinical Immunology. — 2022. — Vol. 42, № 7. — P. 1473–1507. — URL: https://doi.org/10.1007/s10875-022-01289-3
@article{tangye2022human,
title = {{Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee}},
author = {Stuart G. Tangye and Waleed Al–Herz and Aziz A. Bousfiha and Charlotte Cunningham‐Rundles and José Luis Franco and Steven M. Holland and Christoph Klein and Tomohiro Morio and Éric Oksenhendler and Capucine Pïcard and Anne Puel and Jennifer M. Puck and Mikko R. J. Seppänen and Raz Somech and Helen C. Su and Kathleen E. Sullivan and Troy R. Torgerson and Isabelle Meyts},
journal = {Journal of Clinical Immunology},
year = {2022},
volume = {42},
number = {7},
pages = {1473--1507},
doi = {10.1007/s10875-022-01289-3},
url = {https://doi.org/10.1007/s10875-022-01289-3}
}TY - JOUR AU - Tangye, Stuart G. AU - Al–Herz, Waleed AU - Bousfiha, Aziz A. AU - Cunningham‐Rundles, Charlotte AU - Franco, José Luis AU - Holland, Steven M. AU - Klein, Christoph AU - Morio, Tomohiro AU - Oksenhendler, Éric AU - Pïcard, Capucine AU - Puel, Anne AU - Puck, Jennifer M. AU - Seppänen, Mikko R. J. AU - Somech, Raz AU - Su, Helen C. AU - Sullivan, Kathleen E. AU - Torgerson, Troy R. AU - Meyts, Isabelle TI - Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee JO - Journal of Clinical Immunology VL - 42 IS - 7 SP - 1473 EP - 1507 PY - 2022 DA - 2022/06/24 DO - 10.1007/s10875-022-01289-3 UR - https://doi.org/10.1007/s10875-022-01289-3 ER -
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