Abstracts tagged "complement deficiency and genetics"

Abstract Number: 149 • 2017 Pediatric Rheumatology Symposium
Deficiency of Complement C4A or Low Copy Number of Total C4 Genes, HLA-DRB1*15 and HLA-DRB1*03 Are Strong Genetic Risk Factors for Pediatric SLE of European Descent
Stacy Ardoin¹, Pinar Ozge Avar Aydin², Lai Hin Kimi Chan³, Katherine Lintner⁴, Yee Ling Wu^5,6, Rabheh Aziz¹, Anjali Patwardhan^7,8, Evan Mulvihill¹, Gakit Yu⁹, Bi Zhou¹⁰, Emeli Lundstrom¹¹, Leonid Padyukov¹², Kyla Driest¹³, Cagri Yildirim-Toruner¹³, Sharon Bout-Tabaku¹³, Charles Spencer¹⁴, Gloria Higgins¹, Sampath Prahalad¹⁵, Hermine Brunner¹⁶ and Chack-Yung Yu^10,17, ¹Pediatrics and Rheumatology, Nationwide Children's Hospital and The Ohio State University, Columbus, OH, ²Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ³Pediatrics, Emory University School of Medicine, Atlanta, GA, ⁴Pediatrics, Nationwide Children's Hospital, Columbus, OH, ⁵The Research Institute at Nationwide Children's Hospital and The Ohio State University, Columbus, OH, ⁶Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, OH, ⁷Pediatric Rheumatology, Nationwide Childrens Hospital, Columbus, OH, ⁸Pediatric Rheumatology, Nationwide Children's Hospital, Columbia, MO, ⁹Center for Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, ¹⁰Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital and The Ohio State University, Columbus, OH, ¹¹Rheumatology, Karolinska Institute, Stockholm, Switzerland, ¹²Rheumatology Unit, Department of Medicine, Karolinska Institutet and Karolinska Hospital, Stockholm, Sweden, ¹³Rheumatology, Nationwide Children's Hospital, Columbus, OH, ¹⁴Rheumatology, Nationwide Childrens Hospital/OSU, Columbus, OH, ¹⁵Pediatrics, Emory Children's Center, Atlanta, GA, ¹⁶Rheumatology, PRCSG, Cincinnati, OH, ¹⁷Pediatrics, Ohio State Univ, Columbus, OH
Background/Purpose: A complete genetic deficiency of complement C4 almost always leads to the pathogenesis of systemic lupus erythematosus (SLE) with childhood onset, although its prevalence…

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