Výsledky vyhledávání - "G Montealegre"

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Publikováno v: Journal of Clinical Investigation. 125:4196-4211

Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't;Erratium en J Clin Invest. 2016 Feb 1;126(2):795. doi: 10.1172/JCI86020: https://www.jci.org/articles/view/86020 Autosomal recessive mutations in proteasome subun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84dd172581930722135aed4d91ce961f
https://doi.org/10.1172/jci81260

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Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE)

Publikováno v: Pediatric Rheumatology Online Journal

Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) G Montealegre, A Reinhardt, P Brogan, Y Berkun, A Zlotogorski, D Brown, P Chira, L Gao,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72a28ea773bec2dc544bc5e4a6fca5f1
https://doi.org/10.1186/1546-0096-13-s1-o31

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Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN

Autor: Leonardo Oliveira Mendonça, AA de Jesus, Deepti Suri, Louise Malle, Settara C. Chandrasekharappa, R. Goldbach-Mansky, FX Donavan, G Montealegre, D. Chapelle

Publikováno v: Pediatric Rheumatology Online Journal

Purpose Deficiency of interleukin-1 receptor antagonist (DIRA) is a rare life-threatening autoinflammatory disease caused by autosomal recessive mutations in IL1RN. DIRA presents clinically with early onset generalized pustulosis, multifocal osteomye

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48312db859c93bbca6038b465d3e1f57
https://doi.org/10.1186/1546-0096-13-s1-p143

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Interstitial Lung Disease In Sting-Associated Vasculopathy With Onset In Infancy (Savi): Preliminary Genotype-Phenotype Correlation

Publikováno v: Pediatric Rheumatology Online Journal

Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): preliminary genotype-phenotype correlation L Malle, B Marrero, Y Liu, G Montealegre, D Chapelle, H Kim, M O’Brien, S Hill, JR Fontana, S Ramsey, G Duckers, S O

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d295afdb6c57c2556894957765bd8f6
http://hdl.handle.net/11655/14104

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THU0571 Preliminary Response To Janus Kinase Inhibition with Baricitinib in Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperatures (CANDLE)

Publikováno v: Annals of the Rheumatic Diseases. 75:398.2-399

Background Elevated serum IP-10 (CXCL10) levels and gene expression studies showing a prominent “interferon (IFN) signature” suggested modulation of IFN signaling might be a therapeutic option in CANDLE patients. Objectives The objective of this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b58873398734e32c3a973bdf0936e72e
https://doi.org/10.1136/annrheumdis-2016-eular.2810

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Stratification of patients with autoinflammatory phenotypes by interferon (IFN) score suggests a new group of IFN mediated autoinflammatory diseases with overlapping clinical phenotypes

Publikováno v: Pediatric Rheumatology Online Journal

Stratification of patients with autoinflammatory phenotypes by interferon (IFN) score suggests a new group of IFN mediated autoinflammatory diseases with overlapping clinical phenotypes A Almeida de Jesus, Z Deng, S Brooks, H Kim, G Montealegre, D Ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244ef85a55d5a910cc02dd9eb851277e
http://europepmc.org/articles/PMC4597000

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A157: Macrophage Activation Syndrome-like Illness Due to an Activating Mutation in NLRC4

Autor: Susanne M. Benseler, Sushanth Gouni, Bernadette Marrero, G Montealegre, Yan Huang, Stephen R. Brooks, Dawn Chapelle, Nicole Plass, Yin Liu, Ronald M. Laxer, Scott W. Canna, Michael A. DiMattia, Raphaela Goldbach-Mansky, Adriana Almeida de Jesus, Zuoming Deng

Publikováno v: Arthritis & Rheumatology. 66:S203-S203

Background/Purpose: Macrophage Activation Syndrome (MAS) is a life-threatening systemic inflammatory disorder of unknown etiology. While MAS has no known genetic basis, clinical similarity with a genetic disorder of impaired cytotoxicity known as pri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e8246ee0328716ab229093266145fa47
https://doi.org/10.1002/art.38583

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