Version history

{
  "pmid": "36198931",
  "doi": "10.1007/s10875-022-01352-z",
  "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.",
  "journal": "Journal of Clinical Immunology",
  "year": 2022,
  "authors": "Aziz Bousfiha; Abderrahmane Moundir; Stuart G. Tangye; Capucine Pïcard; Leïla Jeddane; Waleed Al–Herz; Charlotte Cunningham Rundles; José Luis Franco; Steven M. Holland; Christoph Klein; Tomohiro Morio; Éric Oksenhendler; Anne Puel; Jennifer M. Puck; Mikko Seppänen; Raz Somech; Helen C. Su; Kathleen E. Sullivan; Troy R. Torgerson; Isabelle Meyts",
  "url": "https://doi.org/10.1007/s10875-022-01352-z",
  "external_ids": {
    "openalex": "W4302278284",
    "openalex_id": "W4302278284",
    "orcid_author": "0000-0003-3489-5036",
    "scientist_orcid": "0000-0003-3489-5036",
    "scientist_author": "troy-torgerson"
  },
  "citation_count": 479
}