Abstracts tagged "pediatric rheumatology and signal transduction"

Abstract Number: 2653 • 2012 ACR/ARHP Annual Meeting
A Subset of up-Regulated IFN Regulated Genes in Candle Patients Decrease with Treatment with a JAK Inhibitor
Adriana Almeida de Jesus¹, Yin Liu², Gina A. Montealegre³, Adam L. Reinhardt⁴, Diane Brown⁵, Antonio Torrelo⁶, Angel V. Casano⁷, Lena Das⁸, Yongqing Chen⁹, Yan Huang⁹, Deborah Stone¹⁰, Dawn C. Chapelle², Nicole Plass², Steven H. Zuckerman¹¹, William Macias¹² and Raphaela T. Goldbach-Mansky², ¹Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ²Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ³NIAMS, Bethesda, MD, ⁴Rheumatology, Children's Hosp of Omaha/UNMC, Omaha, NE, ⁵Division Of Rheumatology MS #60, Children's Hospital Los Angeles, Los Angeles, CA, ⁶Departments of Pediatric Dermatology, Hospital Niño Jesús, Madrid, Spain, Madrid, Spain, ⁷Meditex Spain, Malaga, Spain, ⁸Pediatric Rheumatology, KK Women's and Children's Hospital, Singapore, Singapore, ⁹Translational Autoinflammatory Disease Section, Office of the Clinical Director NIAMS, Bethesda, MD, ¹⁰National Institute of Arthritis & Muscoloskeletal, National Institutes of Health, Bethesda, MD, ¹¹Immunology, Lilly Research Labs, Indianapolis, IN, ¹²Eli Lilly and Company, Indianapolis, IN
Background/Purpose: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a recently described early-onset autoinflammatory disease caused by autosomal recessive mutations in…

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