The expanding spectrum of rare monogenic autoinflammatory diseases.

Isabelle Touitou 1, 2, * Caroline Galeotti 3 Linda Rossi-Semerano 3 Véronique Hentgen 4 Maryam Piram 3 Isabelle Koné-Paut 3
* Auteur correspondant
1 Unité Médicale des Maladies Auto-Inflammatoires
2 Cellules souches mésenchymateuses, environnement articulaire et immunothérapies de la polyarthrite rhumatoide
3 Service de Pédiatrie Générale et Rhumatologie Pédiatrique
4 Service de Pédiatrie
Abstract : : 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.
Keywords : Autoinflammatory diseases Histiocytosis and lymphadenopathy syndrome (H Syndrome) NLRP12 Associated Periodic Syndrome (NAPS12) Deficiency of Interleukin 1 Receptor Antagonist (DIRA) Deficiency of interleukin 36 receptor antagonist (DITRA) Pityriasis rubra pilaris (PRP) Disseminated Superficial Actinic Porokeratosis (DSAP) Autoinflammation LipoDystrophy and Dermatosis syndrome (ALDD)
Type de document :
Article dans une revue
Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.162. 〈10.1186/1750-1172-8-162〉
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Soumis le : jeudi 31 octobre 2013 - 06:09:08
Dernière modification le : vendredi 15 février 2019 - 13:58:16

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Isabelle Touitou, Caroline Galeotti, Linda Rossi-Semerano, Véronique Hentgen, Maryam Piram, et al.. The expanding spectrum of rare monogenic autoinflammatory diseases.. Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.162. 〈10.1186/1750-1172-8-162〉. 〈inserm-00878791〉

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