(Q38093826)

28 August 2017

title

Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature (English)

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28 August 2017

Isabelle Touitou

1

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28 August 2017

language of work or name

English

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publication date

27 March 2013

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Journal of Medical Genetics

28 August 2017

published in

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28 August 2017

volume

50

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28 August 2017

issue

6

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28 August 2017

page(s)

349-359

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The autoinflammatory syndromes

28 August 2017

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21 January 2018

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21 January 2018

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21 January 2018

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Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

21 January 2018

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21 January 2018

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Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins

21 January 2018

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Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene

21 January 2018

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Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?

21 January 2018

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21 January 2018

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The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers

21 January 2018

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Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

21 January 2018

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The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever.

21 January 2018

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The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever

21 January 2018

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Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

21 January 2018

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Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

21 January 2018

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Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

21 January 2018

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Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

PSORS2 is due to mutations in CARD14.

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

Familial pityriasis rubra pilaris is caused by mutations in CARD14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

The spectrum of MEFV clinical presentations--is it familial Mediterranean fever only?

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

The NLR gene family: a standard nomenclature

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

CARD15 mutations in Blau syndrome

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

MEFV mutation carriers and diseases other than familial Mediterranean fever: proved and non-proved associations; putative biological advantage

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

The association of inflammatory bowel disease and Mediterranean fever gene (MEFV) mutations in Turkish children

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

Common variants in the NLRP3 region contribute to Crohn's disease susceptibility

21 January 2018

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Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

MEFV mutations in systemic onset juvenile idiopathic arthritis

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

Familial Mediterranean fever: new phenotypes.

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101577

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

21 January 2018

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10.1136/JMEDGENET-2013-101577

21 January 2018

Identifiers

DOI

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28 August 2017

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