PMID- 29496273
OWN - NLM
STAT- MEDLINE
DCOM- 20181024
LR  - 20181202
IS  - 1768-3122 (Electronic)
IS  - 0248-8663 (Linking)
VI  - 39
IP  - 4
DP  - 2018 Apr
TI  - [NLRC4 associated autoinflammatory diseases: A systematic review of the current 
      literature].
PG  - 279-286
LID - S0248-8663(18)30039-0 [pii]
LID - 10.1016/j.revmed.2018.02.003 [doi]
AB  - 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.
CI  - Copyright (c) 2018 Societe Nationale Francaise de Medecine Interne (SNFMI). 
      Published by Elsevier SAS. All rights reserved.
FAU - Rodrigues, F
AU  - Rodrigues F
AD  - Service de medecine interne, hopital Tenon, universite Paris 6, 
      Pierre-et-Marie-Curie (UPMC), Assistance publique-hopitaux de Paris (AP-HP), 4, 
      rue de la Chine, 75020 Paris, France; Centre de reference des maladies 
      auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hopital Tenon, 
      75020 Paris, France.
FAU - Hentgen, V
AU  - Hentgen V
AD  - Centre de reference des maladies auto-inflammatoires et de l'amylose 
      inflammatoire (CEREMAIA), hopital Tenon, 75020 Paris, France; Service de 
      pediatrie generale, centre hospitalier de Versailles, 179, rue de Versailles, 
      78150 Le Chesnay, France.
FAU - Bachmeyer, C
AU  - Bachmeyer C
AD  - Service de medecine interne, hopital Tenon, universite Paris 6, 
      Pierre-et-Marie-Curie (UPMC), Assistance publique-hopitaux de Paris (AP-HP), 4, 
      rue de la Chine, 75020 Paris, France; Centre de reference des maladies 
      auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hopital Tenon, 
      75020 Paris, France.
FAU - Kone-Paut, I
AU  - Kone-Paut I
AD  - Centre de reference des maladies auto-inflammatoires et de l'amylose 
      inflammatoire (CEREMAIA), hopital Tenon, 75020 Paris, France; Service de 
      rhumatologie pediatrique, universite de Paris SUD, CHU de Bicetre, Assistance 
      publique-hopitaux de Paris, 94270 Le Kremlin-Bicetre, France.
FAU - Belot, A
AU  - Belot A
AD  - Inserm U1111, service de nephrologie, rhumatologie, dermatologie pediatriques, 
      hopital Femme-Mere-Enfant, universite Lyon1, 69677 Bron, France; Centre de 
      reference national maladies rares pour les rhumatismes inflammatoires et les 
      maladies auto-immunes systemiques de l'enfant (RAISE), 75015 Paris, France.
FAU - Grateau, G
AU  - Grateau G
AD  - Service de medecine interne, hopital Tenon, universite Paris 6, 
      Pierre-et-Marie-Curie (UPMC), Assistance publique-hopitaux de Paris (AP-HP), 4, 
      rue de la Chine, 75020 Paris, France; Centre de reference des maladies 
      auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hopital Tenon, 
      75020 Paris, France; Inserm UMRS_933, hopital Trousseau, universite 
      Pierre-et-Marie-Curie (UPMC) - Paris 6, Assistance publique-hopitaux de Paris, 
      26, avenue du Dr Arnold Netter, 75012 Paris, France.
FAU - Sarrabay, G
AU  - Sarrabay G
AD  - Centre de reference des maladies auto-inflammatoires et de l'amylose 
      inflammatoire (CEREMAIA), hopital Tenon, 75020 Paris, France; Laboratoire de 
      genetique, CHU de Montpellier, 191, avenue du Doyen-Gaston-Giraud, 34090 
      Montpellier, France.
FAU - Georgin-Lavialle, S
AU  - Georgin-Lavialle S
AD  - Service de medecine interne, hopital Tenon, universite Paris 6, 
      Pierre-et-Marie-Curie (UPMC), Assistance publique-hopitaux de Paris (AP-HP), 4, 
      rue de la Chine, 75020 Paris, France; Centre de reference des maladies 
      auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hopital Tenon, 
      75020 Paris, France; Inserm UMRS_933, hopital Trousseau, universite 
      Pierre-et-Marie-Curie (UPMC) - Paris 6, Assistance publique-hopitaux de Paris, 
      26, avenue du Dr Arnold Netter, 75012 Paris, France. Electronic address: 
      sophie.georgin-lavialle@aphp.fr.
LA  - fre
PT  - Journal Article
PT  - Review
PT  - Systematic Review
TT  - Les maladies auto-inflammatoires associees aux mutations de NLRC4 : revue 
      systematique de la litterature.
DEP - 20180226
PL  - France
TA  - Rev Med Interne
JT  - La Revue de medecine interne
JID - 8101383
RN  - 0 (CARD Signaling Adaptor Proteins)
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (NLRC4 protein, human)
SB  - IM
MH  - CARD Signaling Adaptor Proteins/*genetics
MH  - Calcium-Binding Proteins/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Hereditary Autoinflammatory Diseases/diagnosis/*genetics
MH  - Humans
MH  - Inflammation/immunology
MH  - Male
MH  - Mutation
MH  - Phenotype
OTO - NOTNLM
OT  - Auto-inflammation
OT  - Autoinflammation
OT  - Familial cold urticaria
OT  - Inflammatory bowel disease
OT  - Macrophagic activation syndrome
OT  - Maladie inflammatoire chronique de l'intestin
OT  - NLRC4
OT  - Syndrome d'activation macrophagique
OT  - Urticaire au froid
EDAT- 2018/03/03 06:00
MHDA- 2018/10/26 06:00
CRDT- 2018/03/03 06:00
PHST- 2017/12/30 00:00 [received]
PHST- 2018/02/01 00:00 [accepted]
PHST- 2018/03/03 06:00 [pubmed]
PHST- 2018/10/26 06:00 [medline]
PHST- 2018/03/03 06:00 [entrez]
AID - S0248-8663(18)30039-0 [pii]
AID - 10.1016/j.revmed.2018.02.003 [doi]
PST - ppublish
SO  - Rev Med Interne. 2018 Apr;39(4):279-286. doi: 10.1016/j.revmed.2018.02.003. Epub 
      2018 Feb 26.