Associated Papers
Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.
Urbaneja E et al.
Frontiers in Immunology, 2024
Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.
Blicharz L et al.
Clinical Reviews in Allergy & Immunology, 2023
A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA).
Mendonça LO et al.
Pediatric Rheumatology Online Journal, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
Working the endless puzzle of hereditary autoinflammatory disorders.
Caso F et al.
Modern Rheumatology, 2014
Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers.
Sharma M et al.
Current Opinion in Rheumatology, 2013
An international registry on autoinflammatory diseases: the Eurofever experience.
Toplak N et al.
Annals of the Rheumatic Diseases, 2012
Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis.
Ferguson PJ et al.
Current Rheumatology Reports, 2012
Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.
Goldbach-Mansky R
Clinical and Experimental Immunology, 2012
The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist.
Stenerson M et al.
Arthritis and Rheumatism, 2011
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Aksentijevich I et al.
Nature Reviews. Rheumatology, 2011
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
Aksentijevich I et al.
The New England Journal of Medicine, 2009
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