scholarly journals CINCA syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Cinca Syndrome

Etanercept induces improvement of arthropathy in chronic infantile neurological cutaneous articular (CINCA) syndrome

2003 ◽  
Vol 32 (5) ◽  
pp. 312-314 ◽  
Author(s):  
G Federico ◽  
D Rigante ◽  
AL Pugliese ◽  
O Ranno ◽  
S Catania ◽  
...  
Keyword(s):  
Cinca Syndrome

scholarly journals 12.3 Long-term follow up of patients with CINCA syndrome: efficacy and tolerability of Anakinra treatment

2008 ◽  
Vol 6 (S1) ◽  
Author(s):  
G Paloni ◽  
M Gattorno ◽  
M Alessio ◽  
D Rigante ◽  
M Cattalini ◽  
...  
Keyword(s):  
Long Term Follow Up ◽  
Cinca Syndrome ◽  
Anakinra Treatment

589 Une cause rare d’œdème papillaire : le CINCA syndrome. Le cas de jumeaux homozygotes

2009 ◽  
Vol 32 ◽  
pp. 1S178
Author(s):  
A. Carzoli ◽  
L. Stalnikiewicz ◽  
O. Henckes ◽  
I. Lemelle ◽  
J.L. George ◽  
...  
Keyword(s):  
Cinca Syndrome

scholarly journals Anakinra in mutation-negative NOMID/CINCA syndrome: Comment on the articles by Hawkins et al and Hoffman and Patel

2004 ◽  
Vol 50 (11) ◽  
pp. 3738-3739 ◽  
Author(s):  
Joost Frenkel ◽  
Nico M. Wulffraat ◽  
Wietse Kuis
Keyword(s):  
Cinca Syndrome

Un cas de CINCA syndrome

1997 ◽  
Vol 18 ◽  
pp. s215
Author(s):  
K Parent ◽  
PY Hatron ◽  
JP Laforge ◽  
E Hachulla ◽  
B Devulder
Keyword(s):  
Cinca Syndrome

Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome

2016 ◽  
Vol 20 (4) ◽  
pp. 365-368
Author(s):  
Tuan Tran ◽  
Thomas Moloney ◽  
Madeleine K. Adams ◽  
Shaheen P. Shah
Keyword(s):  
Cinca Syndrome

Disease Modeling and Drug Discovery Using Induced Pluripotent Stem Cells From CINCA Syndrome Patients

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4680-4680
Author(s):  
Takayuki Tanaka ◽  
Akira Ohta ◽  
Masakatsu Yanagimachi ◽  
Ryuta Nishikomori ◽  
Toshio Heike ◽  
...  
Keyword(s):  
Drug Discovery ◽  
Nlrp3 Inflammasome ◽  
Disease Modeling ◽  
Somatic Mosaicism ◽  
Live Cells ◽  
Nlrp3 Gene ◽  
Inflammatory Conditions ◽  
Cinca Syndrome ◽  
Induced Pluripotent ◽  
Mutant Cells

Abstract Abstract 4680 Chronic infantile neurologic cutaneous and articular syndrome (CINCA syndrome; MIM #607715) is a dominantly inherited autoinflammatory disease characterized by systemic inflammation with an urticaria-like rash, neurological manifestations, and arthropathy. NLRP3 mutation is the first and so far the only identified mutation that is responsible for CINCA syndrome. NLRP3 is expressed mainly in myelomonocytic lineage cells and chondrocytes, and acts as an intracellular sensor of danger signals from various cellular insults. In normal macrophages, a first stimulus, such as lipopolysaccharide (LPS), induces the synthesis of NLRP3 and the biologically inactive proIL-1β. A second stimulus, such as ATP, enhances the assembly of a protein complex called the NLRP3-inflammasome. The inflammasome contains caspase1, which executes the proteolytic maturation and secretion of IL-1β. While normal monocytes/macrophages show no or limited IL-1β secretion in response to LPS stimulation alone, CINCA patients' cells exhibit robust IL-1β secretion, because the mutant NLRP3-inflammasome is auto-activated without the need for any second stimulus. While approximately half of CINCA patients carry heterozygous gain-of-function mutations of the NLRP3 gene, 30 to 40% of all patients have mutations in NLRP3 in only a small number of somatic cells. Since the population of mutant cells is relatively small (4.2–35.8% in blood cells), it remains controversial whether the small fraction of NLRP3-mutated cells actually causes the strong autoinflammation observed in CINCA patients, or whether the NLRP3 mutations found in mosaic patients are just a bystander, with all cells carrying an unknown mutation of another gene that causes the disease. The pathogenesis of CINCA syndrome patients who carry NLRP3mutations as somatic mosaicism has not been precisely described because of the difficulty in separating live cells based on the presence or absence of the mutation. It is believed that most of the manifestations of CINCA syndrome are caused by the excessive secretion of the proinflammatory cytokine, IL-1β, and this concept is supported by the efficacy of an IL-1 receptor antagonist (IL-1Ra) for decreasing most of the symptoms. However, an NLRP3-targeted therapeutic approach would be attractive because 1) the progressive arthropathy despite anti-IL-1 therapy indicates that the presence of additional proteins processed by the inflammasome is also involved in the pathogenesis of CINCA syndrome 2) specific inhibition of the NLRP3-inflammasome can avoid unfavorable suppression of other IL-1β processing pathways in response to various triggers, and 3) these drugs may be also effective for various other NLRP3-related chronic inflammatory conditions, such as Alzheimer's disease, diabetes, severe gout and atherosclerosis. Here, we report the generation of NLRP3-mutant and non-mutant induced pluripotent stem cell (iPSC) lines from two CINCA syndrome patients with somatic mosaicism, and describe their differentiation into macrophages (iPS-MPs). We found that mutant cells are predominantly responsible for the pathogenesis in these mosaic patients because only mutant iPS-MPs showed the disease relevant phenotype of abnormal IL-1β secretion. Next, after confirming that the existing anti-inflammatory compounds inhibited the abnormal IL-1β secretion from iPS-MPs, we started drug screening for CINCA syndrome and other NLRP3-related inflammatory conditions using a recently-established feeder-free differentiation protocol. Among the 3,939 chemically-potent low molecule compounds, 127 candidates inhibited IL-1β secretion by more than 30%. We then excluded compounds that also inhibited IL-6 secretion and selected 23 candidate compounds. We are now validating the potency of these compounds. Our results illustrate that patient-derived iPSCs are useful for dissecting somatic mosaicism, and that NLRP3-mutant iPSCs can provide a valuable platform for drug discovery for multiple NLRP3-related disorders. Disclosures: Yamanaka: iPierian: Membership on an entity's Board of Directors or advisory committees.

scholarly journals Necrotizing Funisitis As an Intrauterine Manifestation of Cryopyrin-Associated Periodic Syndrome: A Case Report and Review of The Literature

2020 ◽  
Author(s):  
Kyoko Yokoi ◽  
Sachiko Minamiguchi ◽  
Yoshitaka Honda ◽  
Mizuho Kobayashi ◽  
Satoru Kobayashi ◽  
...  
Keyword(s):  
Umbilical Artery ◽  
Histopathological Examination ◽  
Severe Form ◽  
Conclusive Evidence ◽  
Recurrent Fever ◽  
Periodic Syndrome ◽  
Case Presentation ◽  
Atypical Symptoms ◽  
Pyrin Domain ◽  
Cinca Syndrome

Abstract Background: Cryopyrin-associated periodic syndrome (CAPS) is a life-long, autoinflammatory disease associated with a gain-of-function mutation in the nucleotide-binding domain, leucine-rich repeat family, pyrin domain containing 3 (NLRP3) gene, which result in uncontrolled production of IL-1β and chronic inflammation. Chronic infantile neurologic cutaneous and articular (CINCA) syndrome/neonatal-Onset multisystem inflammatory disease (NOMID) is the most severe form of CAPS. Although the first symptoms may be presented at birth, there are few reports on the involvement of the placenta and umbilical cord in the disease. Therefore, we present herein a preterm case of CINCA/NOMID syndrome and confirms intrauterine-onset inflammation with conclusive evidence by using fetal and placental histopathological examination. Case presentation: The female patient was born at 33weeks of gestation by emergency caesarean section and weighted at 1,514 g. The most common manifestations of CINCA/NOMID syndrome including recurrent fever, urticarial rash, and ventriculomegaly due to aseptic meningitis were presented. She also exhibited atypical symptoms such as severe hepatosplenomegaly with cholestasis. The genetic analysis of NLRP3 revealed a heterozygous c.1698C>A (p.Phe566Leu) mutation, and she was diagnosed with CINCA/NOMID syndrome. Further, a histopathological examination revealed necrotizing funisitis, mainly inflammation of the umbilical artery, along with focal neutrophilic and lymphocytic villitis. Conclusion: The necrotizing funisitis, which only involved the artery, was an unusual observation for chorioamnionitis. These evidences suggest that foetal inflammation, probably due to overproduction of IL-1β, caused tissue damage in utero, and the first symptom of a newborn with CINCA/NOMID.

scholarly journals Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome

2009 ◽  
Vol 2009 (jan27 1) ◽  
pp. bcr0920080992-bcr0920080992 ◽  
Author(s):  
A Adan ◽  
M Sole ◽  
B Corcostegui ◽  
R Navarro ◽  
A Bures
Keyword(s):  
Cinca Syndrome

CINCA-Syndrome – A rare cause of unilateral papilledema and loss of vision

2008 ◽  
Vol 39 (01) ◽  
Author(s):  
W Geisel ◽  
N Pellanda ◽  
C Huemer ◽  
J Siegle ◽  
M Weissert
Keyword(s):  
Loss Of Vision ◽  
Cinca Syndrome
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