Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
By W. Al-Herz, A. Bousfiha, J. Casanova, T. Chatila, M. Conley, C. Cunningham-Rundles, Amos Etzioni, J. Franco, H. Gaspar, S. Holland and 8 more. Front. Immun., 2011
1,146 citations recorded by the source corpus.
We report the updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological Societies. As compared to the previous edition, more than 15 novel disease entities have been added in the updated version. For each disorders, the key clinical and laboratory features are provided. This updated classification is meant to help in the diagnostic approach to patients with these diseases.
Subfields: Epidemiology, Immunology
View Paper: https://www.semanticscholar.org/paper/a3bbe717a2a88f5e28bd55f0088c4bfe82dd3a3b
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Citations in the corpus
- Autosomal-dominant immune dysregulation syndrome in humans with CTLA4 mutations (2014, neutral): “Common Variable Immunodeficiency (CVID) is the most frequent primary immunodeficiency (PID) in humans characterized by low immunoglobulin levels, recurrent upper respiratory tract infections and impaired vaccination responses 1,2 .”
- International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity (2017, background): “The new disorders (since 2015 [3]) represent an impressive spectrum of phenotypes.”
- The human gene damage index as a gene-level approach to prioritizing exome variants (2015, background): “For this purpose, we first summarized all currently known 229 PID genes (39, 40) and estimated their GDI scores (Dataset S1, Tab S5).”
- 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).”
- The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease (2014, neutral): “The most common subtypes are Crohn’s disease (CD) and ulcerative colitis (UC).(1,2) There is increasing evidence that IBD arises in genetically susceptible people, who develop a chronic and relapsing inflammatory intestinal immune response toward the intestinal microbiota.”