An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.

ABSTRACT:

Background

Autoinflammatory diseases manifest inflammation without evidence of infection, high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations of IL1RN, which encodes the interleukin-1-receptor antagonist, with prominent involvement of skin and bone.

Methods

We studied nine children from six families who had neonatal onset of sterile multifocal osteomyelitis, periostitis, and pustulosis. Response to empirical treatment with the recombinant interleukin-1-receptor antagonist anakinra in the first patient prompted us to test for the presence of mutations and changes in proteins and their function in interleukin-1-pathway genes including IL1RN.

Results

We identified homozygous mutations of IL1RN in nine affected children, from one f

SUBMITTER: Aksentijevich I 

PROVIDER: S-EPMC2876877 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature