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Journal of Leukocyte Biology|November 3, 2021
Single-cell profiling of T lymphocytes in deficiency of adenosine deaminase 2Zhijie Wu, Shouguo Gao, Naoki Watanabe, et al.
Annals of the Rheumatic Diseases|December 11, 2012
Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcriptsJames E Balow, John G Ryan, Jae Jin Chae, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|May 5, 2026
Hepatic Manifestations and Response to Treatment in Deficiency of Adenosine Deaminase 2Mohammed Rifat Shaik, Hawwa Alao, Nishat Anjum Shaik, et al.
Annals of the Rheumatic Diseases|June 8, 2014
A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory diseaseCailin H Sibley, Andrea Chioato, Sandra Felix, et al.
American Journal of Human Genetics|September 25, 2012
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiencyQing Zhou, Geun-Shik Lee, Jillian Brady, et al.
The Journal of Biological Chemistry|May 9, 2025
Covalent binding of thioredoxin to TXNIP is required for diet-induced insulin resistance in the liverSezin Dagdeviren, Megan F Hoang, Jialu Wang, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 26, 2016
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory diseaseQing Zhou, Xiaomin Yu, Erkan Demirkaya, et al.
The Journal of Allergy and Clinical Immunology|November 15, 2021
TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2)Natalie T Deuitch, Dan Yang, Pui Y Lee, et al.
The Journal of Clinical Investigation|November 3, 2015
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN productionAnja Brehm, Yin Liu, Afzal Sheikh, et al.
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