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Orphanet J Rare Dis. 2013 Oct 16;8:162. doi: 10.1186/1750-1172-8-162.

The expanding spectrum of rare monogenic autoinflammatory diseases.

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Laboratoire de génétique des maladies rares et auto-inflammatoires, CHRU de Montpellier, Montpellier, France.


Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of the first causative gene in 1997 was rapidly followed by the identification of many others from the same group. The mutated proteins can be directly or indirectly involved in the regulation of inflammation. The available literature includes numerous reviews, which address the principle diseases, but we wanted to focus on the most recent rare syndromes. A comprehensive review is thus provided, including taxonomic, genetic, and epidemiological data, along with characteristics defining positive and differential diagnoses and treatment. We believe that this update will assist physicians in correctly naming their patient's illness. This is an essential step for the effective and targeted management of an orphan disease.

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