Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
By C. Picard, W. Al-Herz, A. Bousfiha, J. Casanova, T. Chatila, M. Conley, C. Cunningham-Rundles, Amos Etzioni, S. Holland, C. Klein and 8 more. Journal of Clinical Immunology, 2015
741 citations recorded by the source corpus.
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.
Subfields: Epidemiology, Immunology
View Paper: https://www.semanticscholar.org/paper/3552ad8b6b80ed5a948c8eeef59915686292a85c
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
- Stefano Volpi
- Y. Yamazaki
- Patrick M. Brauer
- Ellen van Rooijen
- A. Hayashida
- A. Slavotinek
- Hye Sun Kuehn
- M. Di Rocco
Citations in the corpus
- EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay (2017, background): “Primary immunodeficiencies include over 300 distinct disorders (Picard et al., 2015), and genetic disorders of the skeleton include over 450 disorders (Bonafe et al., 2015).”