The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

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

doi:10.1007/s10875-022-01352-z

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which accompanies and complements the most-recent genotypic classification. This phenotypic classification is aimed for clinicians at the bedside and focuses on clinical features and laboratory phenotypes of specific IEI. In this classification, 485 IEI underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity and auto-inflammation are described, including 55 novel monogenic defects and 1 autoimmune phenocopy. Therefore, all 485 diseases of the genetic classification are presented in this paper in the form of colored tables with essential clinical or immunological phenotype entries.

Original language	English
Pages (from-to)	1508-1520
Number of pages	13
Journal	Journal of Clinical Immunology
Volume	42
Issue number	7
DOIs	https://doi.org/10.1007/s10875-022-01352-z
State	Published - Oct 2022
Externally published	Yes

Keywords

Autoinflammatory disorders
Classification
IUIS
Immune dysregulation
Inborn errors of immunity
Primary immune deficiency

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Bousfiha, A., Moundir, A., Tangye, S. G., Picard, C., Jeddane, L., Al-Herz, W., Rundles, C. C., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Oksenhendler, E., Puel, A., Puck, J., Seppänen, M. R. J., Somech, R., Su, H. C., Sullivan, K. E., Torgerson, T. R., & Meyts, I. (2022). The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. Journal of Clinical Immunology, 42(7), 1508-1520. https://doi.org/10.1007/s10875-022-01352-z

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abstract = "The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which accompanies and complements the most-recent genotypic classification. This phenotypic classification is aimed for clinicians at the bedside and focuses on clinical features and laboratory phenotypes of specific IEI. In this classification, 485 IEI underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity and auto-inflammation are described, including 55 novel monogenic defects and 1 autoimmune phenocopy. Therefore, all 485 diseases of the genetic classification are presented in this paper in the form of colored tables with essential clinical or immunological phenotype entries.",

keywords = "Autoinflammatory disorders, Classification, IUIS, Immune dysregulation, Inborn errors of immunity, Primary immune deficiency",

author = "Aziz Bousfiha and Abderrahmane Moundir and Tangye, {Stuart G.} and Capucine Picard and Le{\"i}la Jeddane and Waleed Al-Herz and Rundles, {Charlotte C.} and Franco, {Jose Luis} and Holland, {Steven M.} and Christoph Klein and Tomohiro Morio and Eric Oksenhendler 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",

note = "Publisher Copyright: {\textcopyright} 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.",

year = "2022",

month = oct,

doi = "10.1007/s10875-022-01352-z",

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Bousfiha, A, Moundir, A, Tangye, SG, Picard, C, Jeddane, L, Al-Herz, W, Rundles, CC, Franco, JL, Holland, SM, Klein, C, Morio, T, Oksenhendler, E, Puel, A, Puck, J, Seppänen, MRJ, Somech, R, Su, HC, Sullivan, KE, Torgerson, TR & Meyts, I 2022, 'The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity', Journal of Clinical Immunology, vol. 42, no. 7, pp. 1508-1520. https://doi.org/10.1007/s10875-022-01352-z

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AU - Morio, Tomohiro

AU - Oksenhendler, Eric

AU - Puel, Anne

AU - Puck, Jennifer

AU - Seppänen, Mikko R.J.

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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

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Keywords

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