Abstracts tagged "genetic disorders and innate immunity"

Abstract Number: 926 • 2018 ACR/ARHP Annual Meeting
Truncating Mutations in SAMD9L Cause an Early-Onset Immune-Dysregulatory Syndrome of Neutrophilic Panniculitis, Interstitial Lung Disease and Cytopenias
Adriana Almeida de Jesus¹, Bernadette Marrero¹, Gina A. Montealegre Sanchez¹, Jon (Sandy) Burnham², Alice Chan³, Yuriy Stepanovskiy⁴, Angela Rösen-Wolff⁵, Christian Hedrich⁶, MinAe Lee-Kirsch⁵, Joseph A. Duncan⁷, Jin Yao Mo⁷, Liliana Bezrodnik⁸, Gisela Seminario⁸, Maria Soledad Caldirola⁸, Eric Allenspach⁹, Troy R. Torgerson¹⁰, Laura Finn¹¹, Rachel VanTries¹, Yan Huang¹, Stephen R. Brooks¹², Zuoming Deng¹³ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Pediatric Rheumatology, Children's Hospital of Philadelphia, Philadelphia, PA, ³Pediatrics, UCSF, San Francisco, CA, ⁴Shupyk National Academy of Postgraduate Education, Kyiv, Ukraine, ⁵Children's Hospital Dresden, Dresden, Germany, ⁶Pediatric Rheumatology and Immunology, Children's Hospital Dresden, Dresden, Germany, ⁷University of North Carolina School of Medicine, Chapel Hill, NC, ⁸Center of Clinical Immunology, Buenos Aires, Argentina, ⁹Immunology/Rheumatology, Seattle Children's Research Institute, Seattle, WA, ¹⁰Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, ¹¹University of Washington and Seattle Children's Hospital, Seattle, WA, ¹²Biodata Mining and Discovery Section, Office of Science and Technology, NIAMS/NIH, Bethesda, MD, ¹³NIAMS/NIH, Bethesda, MD
Background/Purpose: The Sterile Alpha Motif Domain Containing 9 Like protein that is encoded by SAMD9L plays a role in endosome fusion, and deletions (haploinsufficiency) of…

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