An autoinflammatory disease due to homozygous deletion of the IL1RN locus.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19494219.
- Also identified by DOI 10.1056/NEJMoa0809568 and PMC identifier 2803085.
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Abstract
We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. Genetic studies revealed a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleukin-1 family members, including the gene encoding the interleukin-1-receptor antagonist (IL1RN). Mononuclear cells, obtained from the patient and cultured, produced large amounts of inflammatory cytokines, with increasing amounts secreted after stimulation with lipopolysaccharide. A similar increase was not observed in peripheral-blood mononuclear cells from a patient with neonatal-onset multisystem inflammatory disorder (NOMID). Treatment with anakinra completely resolved the symptoms and lesions.
Medical subject headings
- Autoimmune Diseases
- Gene Deletion
- Inflammation
- Interleukin 1 Receptor Antagonist Protein