Title |
Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
|
---|---|
Published in |
Frontiers in immunology, April 2014
|
DOI | 10.3389/fimmu.2014.00162 |
Pubmed ID | |
Authors |
Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Mary Ellen Conley, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, H. Bobby Gaspar, Steven M. Holland, Christoph Klein, Shigeaki Nonoyama, Hans D. Ochs, Erik Oksenhendler, Capucine Picard, Jennifer M. Puck, Kate Sullivan, Mimi L. K. Tang |
Abstract |
We report the updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition, we have added a table of acquired defects that are phenocopies of PIDs. For each disorder, the key clinical and laboratory features are provided. This classification is the most up-to-date catalog of all known PIDs and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 33% |
Kuwait | 1 | 17% |
Unknown | 3 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 5 | 83% |
Scientists | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Colombia | 2 | <1% |
United Kingdom | 2 | <1% |
Italy | 1 | <1% |
Brazil | 1 | <1% |
Austria | 1 | <1% |
Canada | 1 | <1% |
Mexico | 1 | <1% |
Argentina | 1 | <1% |
Spain | 1 | <1% |
Other | 1 | <1% |
Unknown | 308 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 51 | 16% |
Student > Ph. D. Student | 42 | 13% |
Student > Master | 40 | 13% |
Student > Bachelor | 38 | 12% |
Other | 30 | 9% |
Other | 73 | 23% |
Unknown | 46 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 129 | 40% |
Agricultural and Biological Sciences | 51 | 16% |
Biochemistry, Genetics and Molecular Biology | 34 | 11% |
Immunology and Microbiology | 26 | 8% |
Nursing and Health Professions | 3 | <1% |
Other | 15 | 5% |
Unknown | 62 | 19% |