Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases.

Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. Research Abstract Details 

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Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. Abstract Text:

Neonatal-onset multisystem inflammatory disorder (NOMID) is a rare congenital disorder characterized by a neonatal-onset urticarial rash, arthropathy, recurrent fevers, and central nervous system disease. We report 3 cases in which patients presented with neonatal-onset urticarial eruption and other organ involvement of varying severity. Genetic testing of 2 of these patients revealed previously unreported genetic mutations in exon 3 of the CIAS1 gene, a recently discovered member of the pyrin gene family. The third patient did not demonstrate a CIAS1 mutation. These cases illustrate the genetic basis of NOMID, an autoinflammatory disorder, and highlight the emerging role of the pyrin gene family in the regulation of nuclear factor kappaB signaling and other pathways involved in inflammation and apoptosis.

Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. Publishing Authors By Initials

For similar diagnosis: prognosis: treatment outcome research abstracts see: diagnosis: prognosis: treatment outcome research

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Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Archives of dermatology

VOLUME: 141

Page Numbers: 248-53

Journal Abbreviation: Arch Dermatol

ISSN: 0003-987X

DAY: 17

MONTH: Feb

YEAR: 2005

Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. Information

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LANGUAGE: eng

NlmUniqueID: 372433

Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. Keywords Mesh Terms:

KEYWORDS: Treatment Outcome

MESH TERMS: genetics

Chemical & Substance for Abstract: Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. Information

Substance Name: marenostrin

Registry Number: 0

Grant and Affiliation Information for Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases.

AFFILIATION: Department of Dermatology, University of California, San Francisco 94143-0316, USA.

Country: United States

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MEDLINETA: Arch Dermatol

REFSOURCE: Arch Dermatol. 2005 Feb;141(2):242-7

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