The expanding spectrum of rare monogenic autoinflammatory diseases

被引：23

作者：

Touitou, Isabelle ^{[1
,2
,3
]}

Galeotti, Caroline ^{[4
]}

Rossi-Semerano, Linda ^{[4
]}

Hentgen, Veronique ^{[5
]}

Piram, Maryam ^{[4
]}

Kone-Paut, Isabelle ^{[4
]}

机构：

[1] CHRU Montpellier, Lab Genet Malad & Autoinflammatoires, Montpellier, France

[2] INSERM, U844, Montpellier, France

[3] Univ Montpellier I, Montpellier, France

[4] Univ Paris Sud, CHU Bicetre, AP HP, Serv Pediat Gen & Rhumatol Pediat, F-94275 Le Kremlin Bicetre, France

[5] CH Versailles, Serv Pediat, Versailles, France

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2013年 / 8卷

关键词：

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); INTERLEUKIN-36-RECEPTOR ANTAGONIST DEFICIENCY; ENCODING MEVALONATE KINASE; PITYRIASIS-RUBRA-PILARIS; PROTEASOME SUBUNIT; COLON INFLAMMATION; MISSENSE MUTATION; H SYNDROME; RECEPTOR; GENE; IDENTIFICATION;

D O I：

10.1186/1750-1172-8-162

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

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