Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

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Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

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http://www.wikidata.org/entity/Q47556197

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2018 nî lūn-bûn

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2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

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2018年學術文章

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Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

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Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

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Item

label

Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

@en

Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

@nl

prefLabel

Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

@en

Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

@nl

P1476

Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

@en

P2093

Andrew I Shulman

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David Buchbinder

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Gina A Montealegre Sanchez

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Hermine Brunner

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Raphaela Goldbach-Mansky

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P2860

Sweet's syndrome--a comprehensive review of an acute febrile neutrophilic dermatosis

Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

Activated STING in a vascular and pulmonary syndrome

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

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

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

P31

scholarly article

P356

10.1002/ACR.23506

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P577

2018-01-05T00:00:00Z

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P698

29316368

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P932

5920705

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