Abstracts tagged "genetic disorders and pediatric rheumatology"

Abstract Number: 379 • 2017 ACR/ARHP Annual Meeting
H Syndrome: Five New Cases from the United States with Novel Features and Responses to Therapy
Jessica Bloom¹, Clara Lin², Lisa F. Imundo³, Stephen Guthery⁴, Shelly Stepenaskie⁵, Csaba Galambos⁶, Amy Lowichik⁷ and John F. Bohnsack⁸, ¹Pediatrics, Children's Hospital Colorado, Aurora, CO, ²Pediatric Rheumatology, Children's Hospital Colorado, Aurora, CO, ³Pediatrics, Columbia University Medical Center, New York, NY, ⁴Department of Pediatrics,, University of Utah, Salt Lake City, UT, ⁵Pathology and Dermatology, University of New Mexico, Albuquerque, NM, ⁶Pathology, Children's Hospital Colorado, Aurora, CO, ⁷Pathology, University of Utah, Salt Lake City, UT, ⁸Division of Allergy, Immunology and Pediatric Rheumatology, University of Utah, Salt Lake City, UT
Background/Purpose: H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations. The syndrome is caused by mutations…
Abstract Number: 1987 • 2016 ACR/ARHP Annual Meeting
Recessive Coding and Regulatory Mutations in FBLIM1 Underlie the Pathogenesis of Sterile Osteomyelitis
Allison Cox¹, Benjamin W Darbro², Ronald Laxer³, Xinyu Bing⁴, Alexis Finer⁵, Albert Erives⁶, Vinit Mahajan⁷, Alexander G Bassuk¹ and Polly Ferguson⁸, ¹Pediatrics and Interdisciplinary Graduate Program in Genetics, University of Iowa Carver College of Medicine, Iowa City, IA, ²Department of Pediatrics and Interdisciplinary Graduate Program in Genetics, University of Iowa Carver College of Medicine, Iowa City, IA, ³Div of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ⁴Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, ⁵Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, ⁶Biology and Interdisciplinary Graduate Program in Genetics, University of Iowa Carver College of Medicine, Iowa City, IA, ⁷Department of Ophthalmology and Visual Sciences,, University of Iowa Carver College of Medicine, Iowa City, IA, ⁸Department of Pediatrics--Rheumatology, University of Iowa Carver College of Medicine, Iowa City, IA
Background/Purpose: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by…