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

SUBMITTER: Picard C 

PROVIDER: S-EPMC4659841 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature

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

Picard Capucine C   Al-Herz Waleed W   Bousfiha Aziz A   Casanova Jean-Laurent JL   Chatila Talal T   Conley Mary Ellen ME   Cunningham-Rundles Charlotte C   Etzioni Amos A   Holland Steven M SM   Klein Christoph C   Nonoyama Shigeaki S   Ochs Hans D HD   Oksenhendler Eric E   Puck Jennifer M JM   Sullivan Kathleen E KE   Tang Mimi L K ML   Franco Jose Luis JL   Gaspar H Bobby HB  

Journal of clinical immunology 20151019 8


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 malig  ...[more]

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