An autoinflammatory disease due to homozygous deletion of the IL1RN locus.
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.
Reddy
Sreelatha
S
Department of Pediatrics, Medical College of Wisconsin and the Children's Research Institute, Milwaukee 53201, USA.
Jia
Shuang
S
Geoffrey
Rhonda
R
Lorier
Rachel
R
Suchi
Mariko
M
Broeckel
Ulrich
U
Hessner
Martin J
MJ
Verbsky
James
J
D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D001327:Autoimmune Diseases / Q000188:drug therapy / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004247:DNA / Q000302:isolation & purification; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007249:Inflammation / Q000188:drug therapy / Q000235:genetics / Q000276:immunology*; D053590:Interleukin 1 Receptor Antagonist Protein / Q000172:deficiency / Q000235:genetics* / Q000627:therapeutic use; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D017422:Sequence Analysis, DNA
D000894:Anti-Inflammatory Agents, Non-Steroidal; C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D004247:DNA