Journal article

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

Capucine Picard, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Mary Ellen Conley, Charlotte Cunningham-Rundles, Amos Etzioni, Steven M Holland, Christoph Klein, Shigeaki Nonoyama, Hans D Ochs, Eric Oksenhendler, Jennifer M Puck, Kathleen E Sullivan, Mimi LK Tang, Jose Luis Franco, H Bobby Gaspar

JOURNAL OF CLINICAL IMMUNOLOGY | SPRINGER/PLENUM PUBLISHERS | Published : 2015

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 organis..

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