New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.
OBJECTIVE
Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS) are rare periodic fevers associated with CIAS1 mutations. A third entity, the chronic infantile neurological, cutaneous, articular (CINCA) syndrome was also recently associated with mutation in the same gene. A phenotypic and genotypic continuum seems to exist from the most benign (FCAS) to the most severe forms (CINCA). Although a CIAS1 mutation can be associated with two different phenotypes.


METHODS
We report a family of three patients exhibiting the MWS and FCAS phenotypes. These phenotypes were associated with a novel missense mutation in CIAS1.


RESULTS
Anakinra controlled inflammatory flares in the three patients.


CONCLUSIONS
FCAS, MWS and CINCA could be different phenotype expressions of the same disease.
Maksimovic
L
L
Service de Médecine Interne, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Université Paris 13, Paris, France.
Stirnemann
J
J
Caux
F
F
Ravet
N
N
Rouaghe
S
S
Cuisset
L
L
Letellier
E
E
Grateau
G
G
Morin
A-S
AS
Fain
O
O
D000293:Adolescent; D000328:Adult; D018771:Arthralgia / Q000235:genetics / Q000276:immunology; D001327:Autoimmune Diseases / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics*; D002908:Chronic Disease; D003080:Cold Temperature; D003231:Conjunctivitis / Q000235:genetics / Q000276:immunology; D004252:DNA Mutational Analysis; D005260:Female; D005334:Fever / Q000235:genetics / Q000276:immunology; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010375:Pedigree; D010641:Phenotype; D018570:Risk Assessment; D012720:Severity of Illness Index; D013577:Syndrome; D016896:Treatment Outcome; D014581:Urticaria / Q000235:genetics / Q000276:immunology
D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human