Article
Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.
Arthritis & rheumatology (Hoboken, N.J.) - 1 Sept 2017
Demirkaya Erkan, Zhou Qing, Smith Carolyne K, Ombrello Michael J, Deuitch Natalie, Tsai Wanxia L, Hoffmann Patrycja, Remmers Elaine F, Takeuchi Masaki, Park Yong Hwan, Chae JaeJin, Barut Kenan, Simsek Dogan, Adrovic Amra, Sahin Sezgin, Caliskan Salim, Chandrasekharappa Settara C, Hasni Sarfaraz A, Ombrello Amanda K, Gadina Massimo, Kastner Daniel L, Kaplan Mariana J, Kasapcopur Ozgur, Aksentijevich Ivona
Abstract excerpt
OBJECTIVE: To identify a genetic cause of early-onset systemic lupus erythematosus (SLE) in a large consanguineous family from Turkey and to study the mechanisms of the disease. METHODS: We performed whole-exome sequencing and single-nucleotide polymorphism array genotyping in family members with and without SLE. Protein and gene expression, cytokine profile, neutrophil extracellular trap (NET) formation, and...
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