Document Detail

An autoinflammatory disease due to homozygous deletion of the IL1RN locus.
MedLine Citation:
PMID:  19494219     Owner:  NLM     Status:  MEDLINE    
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.
Sreelatha Reddy; Shuang Jia; Rhonda Geoffrey; Rachel Lorier; Mariko Suchi; Ulrich Broeckel; Martin J Hessner; James Verbsky
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The New England journal of medicine     Volume:  360     ISSN:  1533-4406     ISO Abbreviation:  N. Engl. J. Med.     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-06-04     Completed Date:  2009-06-12     Revised Date:  2014-09-22    
Medline Journal Info:
Nlm Unique ID:  0255562     Medline TA:  N Engl J Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2438-44     Citation Subset:  AIM; IM    
Copyright Information:
2009 Massachusetts Medical Society
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MeSH Terms
Anti-Inflammatory Agents, Non-Steroidal / therapeutic use
Autoimmune Diseases / drug therapy,  genetics*
Chromosomes, Human, Pair 2 / genetics
DNA / isolation & purification
Gene Deletion*
Infant, Newborn
Inflammation / drug therapy,  genetics,  immunology*
Interleukin 1 Receptor Antagonist Protein / deficiency,  genetics*,  therapeutic use
Oligonucleotide Array Sequence Analysis
Sequence Analysis, DNA
Grant Support
R01 AI078713/AI/NIAID NIH HHS; R01 AI078713-05A2/AI/NIAID NIH HHS; R01AI078713/AI/NIAID NIH HHS; R56 AI078713/AI/NIAID NIH HHS; R56 AI078713-05A1/AI/NIAID NIH HHS; U19 AI062627-040005/AI/NIAID NIH HHS; U19 AI062627-050005/AI/NIAID NIH HHS; U19AI062627/AI/NIAID NIH HHS
Reg. No./Substance:
0/Anti-Inflammatory Agents, Non-Steroidal; 0/IL1RN protein, human; 0/Interleukin 1 Receptor Antagonist Protein; 9007-49-2/DNA
Comment In:
N Engl J Med. 2009 Jun 4;360(23):2467-70   [PMID:  19494224 ]

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