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Nature Genetics|September 2, 1999
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBATL Feliubadaló, M Font, J Purroy, et al.The Journal of Experimental Medicine|March 10, 2026
The STING HAQ haplotype and clinical non-penetrance in COPA syndromeClémence David, Tifenn Wauquier, Alix de Becdelièvre, et al.Blood|April 21, 2023
Spectrum of clonal hematopoiesis in VEXAS syndromeFernanda Gutierrez-Rodrigues, Yael Kusne, Jenna Fernandez, et al.Blood|February 2, 2024
Venous and arterial thrombosis in patients with VEXAS syndromeYael Kusne, Atefeh Ghorbanzadeh, Alina Dulau-Florea, et al.Blood|July 6, 2022
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesisMarcela A Ferrada, Sinisa Savic, Daniela Ospina Cardona, et al.Journal of Human Immunity|November 26, 2025
Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiencyTristan J van der Linden, Rob J W Arts, Catherine M Biggs, et al.Nature Immunology|July 20, 2017
A guiding map for inflammationMihai G Netea, Frances Balkwill, Michel Chonchol, et al.Nature Genetics|July 13, 2010
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's diseaseElaine F Remmers, Fulya Cosan, Yohei Kirino, et al.Nature Genetics|December 8, 2015
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory diseaseQing Zhou, Hongying Wang, Daniella M Schwartz, et al.Annals of the Rheumatic Diseases|April 26, 2019
Classification criteria for autoinflammatory recurrent feversMarco Gattorno, Michael Hofer, Silvia Federici, et al.Pageof 200