Beverly Barham

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Qing Zhou, Dan Yang, Amanda K. Ombrello et al. · New England Journal of Medicine · 2014 · 871 citations · Full text

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Qing Zhou, Hongying Wang, Daniella M. Schwartz et al. · Nature Genetics · 2015 · 601 citations · Full text

Inflammation, Rheumatology, A20 Haploinsufficiency Cause +14

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

Najoua Lalaoui, Steven E. Boyden, Hirotsugu Oda et al. · Nature · 2019 · 316 citations · Full text

Autoinflammatory Disorders, Pathogenesis, Immunology +9

Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade

S Stojanov, Sivia Lapidus, Puja Chitkara et al. · Proceedings of the National Academy of Sciences · 2011 · 283 citations

Immunodeficiencies, Innate Immune System, Immunology +20

Familial mediterranean fever with a single <i>MEFV</i> mutation: Where is the second hit?

Matthew G. Booty, Jae Jin Chae, Seth L. Masters et al. · Arthritis & Rheumatism · 2009 · 251 citations · Full text