The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Stuart G. Tangye; Waleed Al-Herz; Aziz Bousfiha; Charlotte Cunningham-Rundles; Jose Luis Franco; Steven M. Holland; Christoph Klein; Tomohiro Morio; Eric Oksenhendler; Capucine Picard; Anne Puel; Jennifer Puck; Mikko R.J. Seppänen; Raz Somech; Helen C. Su; Kathleen E. Sullivan; Troy R. Torgerson; Isabelle Meyts

doi:10.1007/s10875-021-00980-1

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Stuart G. Tangye, Waleed Al-Herz, Aziz Bousfiha, Charlotte Cunningham-Rundles, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Eric Oksenhendler, Capucine Picard, Anne Puel, Jennifer Puck, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts

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191 Scopus citations

Abstract

The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.

Original language	English
Pages (from-to)	666-679
Number of pages	14
Journal	Journal of Clinical Immunology
Volume	41
Issue number	3
DOIs	https://doi.org/10.1007/s10875-021-00980-1
State	Published - Apr 2021

Keywords

Inborn errors of immunity
autoinflammatory disorders
immune dysregulation
primary immunodeficiencies

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10.1007/s10875-021-00980-1

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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. (2021). The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee. Journal of Clinical Immunology, 41(3), 666-679. https://doi.org/10.1007/s10875-021-00980-1

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title = "The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee",

abstract = "The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.",

keywords = "Inborn errors of immunity, autoinflammatory disorders, immune dysregulation, primary immunodeficiencies",

author = "Tangye, {Stuart G.} and Waleed Al-Herz and Aziz Bousfiha and Charlotte Cunningham-Rundles and Franco, {Jose Luis} and Holland, {Steven M.} and Christoph Klein and Tomohiro Morio and Eric Oksenhendler and Capucine Picard and Anne Puel and Jennifer Puck and Sepp{\"a}nen, {Mikko R.J.} and Raz Somech and Su, {Helen C.} and Sullivan, {Kathleen E.} and Torgerson, {Troy R.} and Isabelle Meyts",

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year = "2021",

month = apr,

doi = "10.1007/s10875-021-00980-1",

language = "English",

volume = "41",

pages = "666--679",

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Tangye, SG, Al-Herz, W, Bousfiha, A, Cunningham-Rundles, C, Franco, JL, Holland, SM, Klein, C, Morio, T, Oksenhendler, E, Picard, C, Puel, A, Puck, J, Seppänen, MRJ, Somech, R, Su, HC, Sullivan, KE, Torgerson, TR & Meyts, I 2021, 'The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee', Journal of Clinical Immunology, vol. 41, no. 3, pp. 666-679. https://doi.org/10.1007/s10875-021-00980-1

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AU - Franco, Jose Luis

AU - Holland, Steven M.

AU - Klein, Christoph

AU - Morio, Tomohiro

AU - Oksenhendler, Eric

AU - Picard, Capucine

AU - Puel, Anne

AU - Puck, Jennifer

AU - Seppänen, Mikko R.J.

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The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

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Keywords

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