Title |
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
|
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Published in |
Journal of Clinical Immunology, October 2015
|
DOI | 10.1007/s10875-015-0201-1 |
Pubmed ID | |
Authors |
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 L K. Tang, Jose Luis Franco, H. Bobby Gaspar |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 2 | 33% |
Mexico | 1 | 17% |
Unknown | 3 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 5 | 83% |
Practitioners (doctors, other healthcare professionals) | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 3 | <1% |
Spain | 2 | <1% |
United States | 2 | <1% |
Norway | 1 | <1% |
Argentina | 1 | <1% |
Italy | 1 | <1% |
Japan | 1 | <1% |
Portugal | 1 | <1% |
Unknown | 727 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 112 | 15% |
Student > Master | 103 | 14% |
Student > Ph. D. Student | 83 | 11% |
Student > Bachelor | 77 | 10% |
Other | 63 | 9% |
Other | 165 | 22% |
Unknown | 136 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 270 | 37% |
Biochemistry, Genetics and Molecular Biology | 92 | 12% |
Immunology and Microbiology | 92 | 12% |
Agricultural and Biological Sciences | 70 | 9% |
Nursing and Health Professions | 7 | <1% |
Other | 42 | 6% |
Unknown | 166 | 22% |