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Cell Reports. Medicine|August 16, 2023
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXASZhijie Wu, Shouguo Gao, Qingyan Gao, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 12, 2011
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockadeSilvia Stojanov, Sivia Lapidus, Puja Chitkara, et al.
American Journal of Human Genetics|September 22, 2005
PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritisVictoria E H Carlton, Xiaolan Hu, Anand P Chokkalingam, et al.
Plos Genetics|June 3, 2008
Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosusKimberly E Taylor, Elaine F Remmers, Annette T Lee, et al.
Blood Advances|August 24, 2021
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1Ifeyinwa Emmanuela Obiorah, Bhavisha A Patel, Emma M Groarke, et al.
Nature Genetics|January 8, 2013
Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1Yohei Kirino, George Bertsias, Yoshiaki Ishigatsubo, et al.
Plos Genetics|July 24, 2008
A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2Monica Chang, Charles M Rowland, Veronica E Garcia, et al.
Nature|December 13, 2019
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory diseaseNajoua Lalaoui, Steven E Boyden, Hirotsugu Oda, et al.
Plos Genetics|March 26, 2011
A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogsMia Olsson, Jennifer R S Meadows, Katarina Truvé, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|May 26, 2017
Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic DiseaseErkan Demirkaya, Qing Zhou, Carolyne K Smith, et al.
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