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Rev Med Interne. 2018 Apr;39(4):279-286. doi: 10.1016/j.revmed.2018.02.003. Epub 2018 Feb 26.

[NLRC4 associated autoinflammatory diseases: A systematic review of the current literature].

[Article in French]

Author information

1
Service de médecine interne, hôpital Tenon, université Paris 6, Pierre-et-Marie-Curie (UPMC), Assistance publique-hôpitaux de Paris (AP-HP), 4, rue de la Chine, 75020 Paris, France; Centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hôpital Tenon, 75020 Paris, France.
2
Centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hôpital Tenon, 75020 Paris, France; Service de pédiatrie générale, centre hospitalier de Versailles, 179, rue de Versailles, 78150 Le Chesnay, France.
3
Centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hôpital Tenon, 75020 Paris, France; Service de rhumatologie pédiatrique, université de Paris SUD, CHU de Bicêtre, Assistance publique-hôpitaux de Paris, 94270 Le Kremlin-Bicêtre, France.
4
Inserm U1111, service de néphrologie, rhumatologie, dermatologie pédiatriques, hôpital Femme-Mère-Enfant, université Lyon1, 69677 Bron, France; Centre de référence national maladies rares pour les rhumatismes inflammatoires et les maladies auto-immunes systémiques de l'enfant (RAISE), 75015 Paris, France.
5
Service de médecine interne, hôpital Tenon, université Paris 6, Pierre-et-Marie-Curie (UPMC), Assistance publique-hôpitaux de Paris (AP-HP), 4, rue de la Chine, 75020 Paris, France; Centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hôpital Tenon, 75020 Paris, France; Inserm UMRS_933, hôpital Trousseau, université Pierre-et-Marie-Curie (UPMC) - Paris 6, Assistance publique-hôpitaux de Paris, 26, avenue du Dr Arnold Netter, 75012 Paris, France.
6
Centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hôpital Tenon, 75020 Paris, France; Laboratoire de génétique, CHU de Montpellier, 191, avenue du Doyen-Gaston-Giraud, 34090 Montpellier, France.
7
Service de médecine interne, hôpital Tenon, université Paris 6, Pierre-et-Marie-Curie (UPMC), Assistance publique-hôpitaux de Paris (AP-HP), 4, rue de la Chine, 75020 Paris, France; Centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hôpital Tenon, 75020 Paris, France; Inserm UMRS_933, hôpital Trousseau, université Pierre-et-Marie-Curie (UPMC) - Paris 6, Assistance publique-hôpitaux de Paris, 26, avenue du Dr Arnold Netter, 75012 Paris, France. Electronic address: sophie.georgin-lavialle@aphp.fr.

Abstract

The auto-inflammatory diseases linked to NLRC4 mutations are recently described entities. Transmission is autosomal dominant in 80 % of cases; cases of somatic mutation have already been reported. The disease may display two very different clinical phenotypes: the phenotype 1 (30 %), severe, is dominated by a multisystemic inflammation starting in the first year of life with symptoms of chronic inflammatory bowel disease (IBD), macrophagic actication syndrome (MAS), or even a presentation suggesting a cryopyrinopathy in its CINCA form; the mortality of this phenotype is high (25 %). The phenotype 2 (70 %), mild, usually starts after the age of 3 and is characterized by cold urticaria, arthralgia, ocular features and fever in 50 % of cases without visceral failure. Anti-interleukin-1 inhibitors are effective in most cases (83 %). Interleukin-18 (IL-18) levels are very high in both clinical forms. Interleukin-18 inhibitors and anti-interferon-gamma inhibitors were remarkably effective in two very severe phenotype 1 patients. Thus, NLRC4 mutations can induce various clinical manifestations with two distinct phenotypes. Although still rare, because very recently described, this group of diseases could be evoked by an internist in front of cold familial urticarial; probably more and more cases will be diagnosed thanks to the major progresses of genetic diagnostic tools such as next generation sequencing.

KEYWORDS:

Auto-inflammation; Autoinflammation; Familial cold urticaria; Inflammatory bowel disease; Macrophagic activation syndrome; Maladie inflammatoire chronique de l’intestin; NLRC4; Syndrome d’activation macrophagique; Urticaire au froid

PMID:
29496273
DOI:
10.1016/j.revmed.2018.02.003
[Indexed for MEDLINE]

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