Published in:
01-05-2018 | Editorial
The International Alliance of Primary Immune Deficiency Societies
Authors:
Andrew R. Gennery, Roshini S. Abraham, Troy R. Torgerson, Amos Etzioni, Andrew J. Cant, Isabelle Meyts, James Chipeta, Ahmed Aziz Bousfiha, Tandakha D. Dieye, Antonio Condino-Neto, Francisco Espinosa, Liliana Besrodnik, Yu-Lung Lau, Surjit Singh, Godfrey C. F. Chan, Jordan S. Orange, on behalf of the European Society for Immunodeficiencies, Clinical Immunology Society, African Society for Immunodeficiencies, Latin American Society for Immunodeficiencies, Asia Pacific Society for Immunodeficiencies
Published in:
Journal of Clinical Immunology
|
Issue 4/2018
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Excerpt
Since the description of X-linked agammaglobulinemia in 1952, our understanding of how the immune system works, and how it can cause disease when specific elements fail to function or are overactive has grown exponentially. Mutations in over 300 genes causing inborn errors of immunity, known as primary immune disorders, are now recognised [
1]. Phenotypes range from increased susceptibility to infection with a restricted or a wide range of pathogens, through autoinflammation, autoimmunity, allergy and predisposition to malignancy. Although collectively these diseases are not so rare, affecting as many as 1–2/100, for many phenotypes or genotypes, only very few patients have been described to date, and the true prevalence of primary immune disorders is not possible to estimate at this time. …
