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Research Square|December 31, 2025
Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2Oskar Schnappauf, Hongying Wang, Qing Zhou, et al.
Journal of Clinical Immunology|July 9, 2020
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual InheritanceOskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, 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.
Cell|August 7, 2021
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell deathJustin Taft, Michael Markson, Diana Legarda, et al.
Frontiers in Immunology|January 31, 2022
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient CohortKaryl S Barron, Ivona Aksentijevich, Natalie T Deuitch, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|October 6, 2020
Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2Oskar Schnappauf, Natalia Sampaio Moura, Ivona Aksentijevich, 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.
Arthritis & Rheumatology (Hoboken, N.J.)|March 29, 2021
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXASMarcela A Ferrada, Keith A Sikora, Yiming Luo, et al.
American Journal of Medical Genetics. Part A|February 1, 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesKevin E Glinton, Anna C E Hurst, Kevin M Bowling, et al.
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