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Annals of the Rheumatic Diseases|March 19, 2013
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory diseaseMonique Stoffels, Agata Szperl, Anna Simon, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 12, 2010
Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndromeAnna Simon, Heiyoung Park, Ravikanth Maddipati, et al.
Ophthalmology|November 4, 2022
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal DystrophyLaryssa A Huryn, Christina Torres Kozycki, Jasmine Y Serpen, 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.
Frontiers in Immunology|April 3, 2019
Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBACHirotsugu Oda, David B Beck, Hye Sun Kuehn, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|December 26, 2025
Deficiency of AP1M2 causes a new autoinflammatory disease with colitisTaijie Jin, Jialin Dai, Chenlu Liu, et al.
Frontiers in Immunology|March 17, 2023
Case report: Novel variants in RELA associated with familial Behcet's-like diseaseJason W An, Pallavi Pimpale-Chavan, Deborah L Stone, et al.
Annals of Internal Medicine|October 17, 2012
Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trialPhilip J Hashkes, Steven J Spalding, Edward H Giannini, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|September 7, 2021
Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1Deborah L Stone, Amanda Ombrello, Juan I Arostegui, et al.
Annals of the Rheumatic Diseases|January 11, 2018
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory diseaseFlorence A Aeschlimann, Ezgi D Batu, Scott W Canna, et al.
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