Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 - PubMed (original) (raw)

Review

. 2015 Nov;35(8):696-726.

doi: 10.1007/s10875-015-0201-1. Epub 2015 Oct 19.

Waleed Al-Herz 3 4, Aziz Bousfiha 5, Jean-Laurent Casanova 1 6 7 8 9, Talal Chatila 10, Mary Ellen Conley 6, Charlotte Cunningham-Rundles 11, Amos Etzioni 12, Steven M Holland 13, Christoph Klein 14, Shigeaki Nonoyama 15, Hans D Ochs 16, Eric Oksenhendler 17 18, Jennifer M Puck 19, Kathleen E Sullivan 20, Mimi L K Tang 21 22 23, Jose Luis Franco 24, H Bobby Gaspar 25

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Review

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

Capucine Picard et al. J Clin Immunol. 2015 Nov.

Abstract

We report the updated classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS). In the two years since the previous version, 34 new gene defects are reported in this updated version. For each disorder, the key clinical and laboratory features are provided. In this new version we continue to see the increasing overlap between immunodeficiency, as manifested by infection and/or malignancy, and immune dysregulation, as manifested by auto-inflammation, auto-immunity, and/or allergy. There is also an increased number of genetic defects that lead to susceptibility to specific organisms which reflects the finely tuned nature of immune defense systems. This classification is the most up to date catalogue of all known and published primary immunodeficiencies and acts as a current reference of the knowledge of these conditions and is an important aid for the genetic and molecular diagnosis of patients with these rare diseases.

Keywords: Primary immunodeficiencies; classification; genetic defects.

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