The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus
Open accessAbstract
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.
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Cites
Agostini, L., Martinon, F., Burns, K., McDermott, M. F., Hawkins, P. N., & Tschopp, J. (2004) · Immunity · doi:10.1016/s1074-7613(04)00046-9 · Cited by 1,768
Cited by
Interleukin-1 in the pathogenesis and treatment of inflammatory diseases
Dinarello, C. A. (2011) · Blood · doi:10.1182/blood-2010-07-273417 · Cited by 2,248
The interleukin-1 family: back to the future
Garlanda, C., Dinarello, C. A., & Mantovani, A. (2013) · Immunity · doi:10.1016/j.immuni.2013.11.010 · Cited by 1,945
“Children bornwith a genetic deficiency of IL-1Ra or functional inactive IL-1Ra suffer from severe systemic and local inflammation, including pustular skin eruptions, vasculitis, osteolytic lesions, and sterile osteomyelitis (Aksentijevich et al., 2009; Reddy et al., 2009).”
Treating inflammation by blocking interleukin-1 in a broad spectrum of diseases
Dinarello, C. A., Simon, A., & van der Meer, J. W. M. (2012) · Nature Reviews Drug Discovery · doi:10.1038/nrd3800 · Cited by 1,768
Anti-inflammatory Agents: Present and Future
Dinarello, C. A. (2010) · Cell · doi:10.1016/j.cell.2010.02.043 · Cited by 1,095
Weber, A., Wasiliew, P., & Kracht, M. (2010) · Science Signaling · doi:10.1126/scisignal.3105cm1 · Cited by 962
Metadata
- Authors
- Reddy, S., Jia, S., Geoffrey, R., Lorier, R., Suchi, M., Broeckel, U., Hessner, M. J., & Verbsky, J.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2009-06-04
- Volume
- 360
- Issue
- 23
- Pages
- 2438-2444
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W1978462186
- Cited by
- 411
- References
- 1
- FWCI
- 14.88
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Reddy, S., Jia, S., Geoffrey, R., Lorier, R., Suchi, M., Broeckel, U., Hessner, M. J., & Verbsky, J. (2009). An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus. New England Journal of Medicine. https://doi.org/10.1056/nejmoa0809568
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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