Nature Communications (May 2019)
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
- Simon H. Jiang,
- Vicki Athanasopoulos,
- Julia I. Ellyard,
- Aaron Chuah,
- Jean Cappello,
- Amelia Cook,
- Savit B. Prabhu,
- Jacob Cardenas,
- Jinghua Gu,
- Maurice Stanley,
- Jonathan A. Roco,
- Ilenia Papa,
- Mehmet Yabas,
- Giles D. Walters,
- Gaetan Burgio,
- Kathryn McKeon,
- James M. Byers,
- Charlotte Burrin,
- Anselm Enders,
- Lisa A. Miosge,
- Pablo F. Canete,
- Marija Jelusic,
- Velibor Tasic,
- Adrian C. Lungu,
- Stephen I. Alexander,
- Arthur R. Kitching,
- David A. Fulcher,
- Nan Shen,
- Todor Arsov,
- Paul A. Gatenby,
- Jeff J. Babon,
- Dominic F. Mallon,
- Carmen de Lucas Collantes,
- Eric A. Stone,
- Philip Wu,
- Matthew A. Field,
- Thomas D. Andrews,
- Eun Cho,
- Virginia Pascual,
- Matthew C. Cook,
- Carola G. Vinuesa
Affiliations
- Simon H. Jiang
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Vicki Athanasopoulos
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Julia I. Ellyard
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Aaron Chuah
- Centre for Personalised Immunology, NHMRC Centre for Research Excellence
- Jean Cappello
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Amelia Cook
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Savit B. Prabhu
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Jacob Cardenas
- Baylor Medical Institute
- Jinghua Gu
- Baylor Medical Institute
- Maurice Stanley
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Jonathan A. Roco
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Ilenia Papa
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Mehmet Yabas
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Giles D. Walters
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Gaetan Burgio
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Kathryn McKeon
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- James M. Byers
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Charlotte Burrin
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Anselm Enders
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Lisa A. Miosge
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Pablo F. Canete
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Marija Jelusic
- Department of Paediatric Rheumatology and Immunology, University of Zagreb School of Medicine
- Velibor Tasic
- University Children’s Hospital, Medical School
- Adrian C. Lungu
- Department of Pediatric Nephrology, Fundeni Clinical Institute
- Stephen I. Alexander
- Centre for Personalised Immunology, NHMRC Centre for Research Excellence
- Arthur R. Kitching
- Centre for Personalised Immunology, NHMRC Centre for Research Excellence
- David A. Fulcher
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Nan Shen
- China Australia Centre for Personalised Immunology, Renji Hospital Shanghai, JiaoTong University Shanghai
- Todor Arsov
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Paul A. Gatenby
- Department of Immunology, The Canberra Hospital
- Jeff J. Babon
- Walter and Eliza Hall Institute
- Dominic F. Mallon
- Immunology PathWest Fiona Stanley Hospital
- Carmen de Lucas Collantes
- Department of Pediatric Nephrology, Children’s University Hospital Niño Jesús
- Eric A. Stone
- Research School of Biology and Research School of Finance, Actuarial Studies and Statistics
- Philip Wu
- Centre for Personalised Immunology, NHMRC Centre for Research Excellence
- Matthew A. Field
- Centre for Personalised Immunology, NHMRC Centre for Research Excellence
- Thomas D. Andrews
- Centre for Personalised Immunology, NHMRC Centre for Research Excellence
- Eun Cho
- Centre for Personalised Immunology, NHMRC Centre for Research Excellence
- Virginia Pascual
- Baylor Medical Institute
- Matthew C. Cook
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- Carola G. Vinuesa
- Department of Immunology and Infectious Disease, John Curtin School of Medical Research
- DOI
- https://doi.org/10.1038/s41467-019-10242-9
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 12
Abstract
Function-altering variants of immune-related genes cause rare autoimmune syndromes, whereas their contribution to common autoimmune diseases remains uncharacterized. Here the authors show that rare variants of lupus-associated genes are present in the majority of lupus patients and healthy controls, but only the variants found in lupus patients alter gene function.
