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
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
The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation.
Moriya K et al.
Journal of Clinical Immunology, 2020
Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report.
Ulusoy E et al.
Journal of Medical Case Reports, 2015
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