Daniel L Kastner, M.D./Ph.D.

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Kozycki CT, Kodati S, Huryn L, et al. (2022) Gain-of-function mutations in cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Annals of the Rheumatic Diseases
Ferrada MA, Savic S, Ospina Cardona D, et al. (2022) Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood
Romano M, Arici ZS, Piskin D, et al. (2022) The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist. Annals of the Rheumatic Diseases
Romano M, Arici ZS, Piskin D, et al. (2022) The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist. Arthritis & Rheumatology (Hoboken, N.J.)
Stone DL, Ombrello A, Arostegui JI, et al. (2021) Excess Serum Interleukin-18 Distinguishes Patients with Pathogenic Mutations in PSTPIP1. Arthritis & Rheumatology (Hoboken, N.J.)
Ferrada MA, Sikora KA, Luo Y, et al. (2021) Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients with VEXAS Syndrome. Arthritis & Rheumatology (Hoboken, N.J.)
Schwartz DM, Kitakule MM, Dizon BL, et al. (2021) Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features. Annals of the Rheumatic Diseases
Park YH, Remmers EF, Lee W, et al. (2020) Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis. Nature Immunology
Schnappauf O, Chae JJ, Kastner DL, et al. (2019) The Pyrin Inflammasome in Health and Disease. Frontiers in Immunology. 10: 1745
Nakanishi H, Kawashima Y, Kurima K, et al. (2017) NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. Proceedings of the National Academy of Sciences of the United States of America