A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation (Q62658646)

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3 January 2020

title

A fatal Turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation (English)

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3 January 2020

3

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author name string

Zubeyde Gunduz

1

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3 January 2020

Ismail Dursun

2

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3 January 2020

Jordi Yagüe

4

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3 January 2020

Ruhan Dusunsel

5

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3 January 2020

Metin Kaya Gurgoze

7

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3 January 2020

Hakan M Poyrazoglu

6

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3 January 2020

Ali Yikilmaz

8

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publication date

8 August 2007

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Rheumatology International

3 January 2020

published in

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3 January 2020

volume

28

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issue

4

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3 January 2020

page(s)

379-383

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https://scigraph.springernature.com/pub.10.1007/s00296-007-0432-4

3 January 2020

exact match

0 references

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Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes

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

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12 December 2020

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

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12 December 2020

Chronic infantile neurological cutaneous and articular syndrome--an early description

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12 December 2020

A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients

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12 December 2020

CATERPILLERs, pyrin and hereditary immunological disorders

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The systemic autoinflammatory diseases: inborn errors of the innate immune system.

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Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU

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