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The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.

  • Author(s): Bousfiha, Aziz;
  • Jeddane, Leïla;
  • Picard, Capucine;
  • Ailal, Fatima;
  • Bobby Gaspar, H;
  • Al-Herz, Waleed;
  • Chatila, Talal;
  • Crow, Yanick J;
  • Cunningham-Rundles, Charlotte;
  • Etzioni, Amos;
  • Franco, Jose Luis;
  • Holland, Steven M;
  • Klein, Christoph;
  • Morio, Tomohiro;
  • Ochs, Hans D;
  • Oksenhendler, Eric;
  • Puck, Jennifer;
  • Tang, Mimi LK;
  • Tangye, Stuart G;
  • Torgerson, Troy R;
  • Casanova, Jean-Laurent;
  • Sullivan, Kathleen E
  • et al.
Abstract

Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.

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