Infevers: an evolving mutation database for auto-inflammatory syndromes (Q40528366)

21 September 2017

title

Infevers: an evolving mutation database for auto-inflammatory syndromes (English)

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21 September 2017

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10

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Michael McDermott

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Jean-Pierre Hugot

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Jean-Pierre Hugot

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author name string

Isabelle Touitou

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Suzanne Lesage

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Laurence Cuisset

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Hal Hoffman

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Catherine Dode

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Nitza Shoham

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Ebun Aganna

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Hans Waterham

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Denis Pugnere

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Jacques Demaille

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Cyril Sarrauste de Menthiere

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publication date

1 September 2004

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21 September 2017

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volume

24

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issue

3

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page(s)

194-198

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Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

21 September 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

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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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

A candidate gene for familial Mediterranean fever

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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations

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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

CARD15 mutations in Blau syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations

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https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20080

7 January 2021

Identifiers

DOI

10.1002/HUMU.20080

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21 September 2017

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