Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease-Reference-Cited by-同舟云学术

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

Published:2017-07-10 Issue:9 Volume:69 Page:1832-1839
ISSN:2326-5191
Container-title:Arthritis & Rheumatology
language:en
Short-container-title:Arthritis & Rheumatology

Author:

Demirkaya Erkan¹,Zhou Qing²,Smith Carolyne K.³,Ombrello Michael J.³,Deuitch Natalie¹,Tsai Wanxia L.³,Hoffmann Patrycja¹,Remmers Elaine F.¹,Takeuchi Masaki¹,Park Yong Hwan¹,Chae JaeJin¹,Barut Kenan⁴,Simsek Dogan⁵,Adrovic Amra⁴,Sahin Sezgin⁴,Caliskan Salim⁴,Chandrasekharappa Settara C.¹,Hasni Sarfaraz A.³,Ombrello Amanda K.¹,Gadina Massimo³,Kastner Daniel L.¹,Kaplan Mariana J.³,Kasapcopur Ozgur⁴,Aksentijevich Ivona¹

Affiliation:

1. National Human Genome Research Institute, NIH; Bethesda Maryland

2. National Human Genome Research Institute, NIH, Bethesda, Maryland, and Zhejiang University; Hangzhou China

3. National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH; Bethesda Maryland

4. Istanbul University; Istanbul Turkey

5. Gulhane Educational and Research Hospital; Ankara Turkey

Funder

National Institutes of Health

National Human Genome Research Institute

National Institute of Arthritis

Musculoskeletal and Skin Diseases

NIH Clinical Center

Research Fellowship Program for International Researchers

Scientific and Technological Research Council of Turkey

Publisher

Wiley

Subject

Immunology,Rheumatology,Immunology and Allergy

Reference14 articles.

1. Genetic susceptibility to SLE: recent progress from GWAS;Cui;J Autoimmun,2013

2. Advances in lupus genetics;Niewold;Curr Opin Rheumatol,2015

3. Complement deficiencies in humans and animals: links to autoimmunity;Lewis;Autoimmunity,2006

4. Lupus nephritis associated with complete C1s deficiency efficiently treated with rituximab: a case report;Bienaime;Arthritis Care Res (Hoboken),2010

5. Clinical presentations and molecular basis of complement C1r deficiency in a male African-American patient with systemic lupus erythematosus;Wu;Lupus,2011

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