Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease (Q26778253)

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28 February 2020

title

Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease (English)

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28 February 2020

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28 February 2020

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28 February 2020

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28 February 2020

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28 February 2020

Paola Galozzi

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28 February 2020

Leonardo Punzi

series ordinal

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28 February 2020

language of work or name

English

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publication date

20 July 2015

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28 February 2020

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28 February 2020

volume

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28 February 2020

issue

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28 February 2020

page(s)

e000097

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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

28 February 2020

cites work

1 reference

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

7 April 2017

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Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

7 April 2017

1 reference

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Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis

7 April 2017

1 reference

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A proposed classification of the immunological diseases

7 April 2017

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The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta

7 April 2017

1 reference

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A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

7 April 2017

1 reference

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

7 April 2017

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Genetics and pathogenesis of inflammatory bowel disease

7 April 2017

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Inflammatory bowel disease

7 April 2017

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A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1

7 April 2017

1 reference

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Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.

7 April 2017

1 reference

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Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis

28 September 2017

1 reference

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Blau syndrome, the prototypic auto-inflammatory granulomatous disease

28 September 2017

1 reference

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Cellular and molecular mechanisms underlying NOD2 risk-associated polymorphisms in Crohn's disease.

28 September 2017

1 reference

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28 September 2017

A case of blau syndrome.

1 reference

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Diagnostic criteria for sarcoidosis

28 September 2017

1 reference

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NOD proteins: regulators of inflammation in health and disease

28 September 2017

1 reference

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Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues

28 September 2017

1 reference

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Blau syndrome-associated uveitis and the NOD2 gene

28 September 2017

1 reference

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Biological treatments: new weapons in the management of monogenic autoinflammatory disorders

28 September 2017

1 reference

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NOD1 and NOD2 Signaling in Infection and Inflammation.

28 September 2017

1 reference

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Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations

28 September 2017

1 reference

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Blau syndrome, clinical and genetic aspects

28 September 2017

1 reference

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The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Hereditary autoinflammatory syndromes: a Brazilian multicenter study.

28 September 2017

1 reference

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Clinical and biochemical landmarks in systemic autoinflammatory diseases

28 September 2017

1 reference

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A new category of autoinflammatory disease associated with NOD2 gene mutations

28 September 2017

1 reference

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Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders

28 September 2017

1 reference

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Detection ofMycobacterium avium ss. Paratuberculosisin Blau Syndrome Tissues

28 September 2017

1 reference

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Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism

28 September 2017

1 reference

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NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain.

28 September 2017

1 reference

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The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity

28 September 2017

1 reference

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Management of Crohn's disease in adults.

28 September 2017

1 reference

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Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.

28 September 2017

1 reference

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Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review

28 September 2017

1 reference

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NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Etiopathogenesis of inflammatory bowel diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Functional consequences of NOD2 (CARD15) mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

CARD15 mutations in Blau syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Early onset sarcoidosis masquerading as juvenile rheumatoid arthritis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Early onset sarcoidosis with aortitis--"juvenile systemic granulomatosis?".

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Etanercept-induced myelopathy in a pediatric case of blau syndrome

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Familial granulomatous synovitis, uveitis, and cranial neuropathies

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome).

31 May 2018

1 reference

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Blau syndrome and latent tubercular infection: an unresolved partnership

28 November 2018

1 reference

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NOD2-associated autoinflammatory disease: an exploratory study of its pathogenesis

28 November 2018

1 reference

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Distal lower extremity swelling as a prominent phenotype of NOD2-associated autoinflammatory disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Autoinflammatory diseases: how to put the fire inside the body out?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation.

28 November 2018

1 reference

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Familial case of Blau syndrome associated with a CARD15/NOD2 mutation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Leg ulcers: a new symptom of Blau syndrome?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

A new CARD15 mutation in Blau syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

Familial granulomatous arthritis, iritis, and rash

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4612691

The genetics of inflammatory bowel disease

28 November 2018

1 reference

12 December 2020

A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene

1 reference

12 December 2020

Granulomatous nephritis associated with R334Q mutation in NOD2

1 reference

12 December 2020

Granulomatous pneumonitis associated with adult-onset Blau-like syndrome

1 reference

12 December 2020

Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene

1 reference

12 December 2020

Early Onset Sarcoidosis with Pulmonary Function Abnormalities

1 reference

12 December 2020

A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members

1 reference

12 December 2020

Blau arteritis resembling Takayasu disease with a novel NOD2 mutation

1 reference

12 December 2020

Ocular myositis occurring with NOD2-associated autoinflammatory disease

1 reference

12 December 2020

A long-term follow-up of Japanese mother and her daughter with Blau syndrome: Effective treatment of anti-TNF inhibitors and useful diagnostic tool of joint ultrasound examination

1 reference

12 December 2020

Pediatric granulomatous arthritis: an international registry

1 reference

12 December 2020

Liver involvement in familial granulomatous arthritis (Blau syndrome)

1 reference

12 December 2020

10.1136/RMDOPEN-2015-000097

Identifiers

DOI

2 references

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28 February 2020

1 reference

2 references

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28 February 2020

PubMed publication ID

26509073

2 references

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