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

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

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

http://www.wikidata.org/entity/Q37401815

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Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome.Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease Primary and secondary central nervous system vasculitis.Blau syndrome, the prototypic auto-inflammatory granulomatous disease Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis.Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.A new category of autoinflammatory disease associated with NOD2 gene mutations.Somatic NOD2 mosaicism in Blau syndrome Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Monogenic autoinflammatory diseases: concept and clinical manifestations.Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.Skin symptoms as diagnostic clue for autoinflammatory diseases.Blau syndrome-associated uveitis and the NOD2 gene.Monogenic autoinflammatory diseases.Genetically defined autoinflammatory diseases.A systematic approach to autoinflammatory syndromes: a spelling booklet for the beginner.Two Chinese pedigrees of Blau syndrome with thirteen affected members.Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.Hereditary autoinflammatory syndromes: a Brazilian multicenter study.A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?A 21-Month-Old Male With Refusal to Walk, Rash, and Weight Loss.A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function.Successful treatment with adalimumab for severe multifocal choroiditis and panuveitis in presumed (early-onset) ocular sarcoidosis.A Case of Blau Syndrome with NOD2 E383K Mutation.Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity.

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P2860

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

http://www.wikidata.org/entity/Q37401815

description

article científic

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bilimsel makale

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scientific article published on June 2009

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vedecký článok

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vetenskaplig artikel

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NOD2-associated pediatric gran ...... nd a national cohort in Spain.

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NOD2-associated pediatric gran ...... nd a national cohort in Spain.

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NOD2-associated pediatric gran ...... nd a national cohort in Spain.

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NOD2-associated pediatric gran ...... nd a national cohort in Spain.

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NOD2-associated pediatric gran ...... nd a national cohort in Spain.

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NOD2-associated pediatric gran ...... nd a national cohort in Spain.

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Arthritis and Rheumatism

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NOD2-associated pediatric gran ...... and a national cohort in Spain

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Carlos D Rosé

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Consuelo Modesto

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Graciela Espada

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James T Rosenbaum

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Jordi Yagüe

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Julia García-Consuegra

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Lisabeth Scalzi

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Maria Cristina Arnal

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María Antonia Carballo Silva

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Rosa Merino

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P2860

Renal granulomatous sarcoidosis in childhood: a report of 11 cases and a review of the literature.

CARD15 mutations in Blau syndrome.

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.

Abdominal aortic aneurysm associated with childhood sarcoidosis.

Sarcoidosis of early onset. A challenge for the pediatric rheumatologist.

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

Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis.

Familial granulomatous synovitis, uveitis, and cranial neuropathies.

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

Familial Granulomatous Arteritis with Polyarthritis of Juvenile Onset

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1797-1803

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10.1002/ART.24533

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6

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60

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Juan I Arostegui

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2009-06-01T00:00:00Z

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