Abstract
Purpose Deficiency of interleukin-1 receptor antagonist (DIRA) is a rare life-threatening autoinflammatory disease caused by autosomal recessive mutations in IL1RN. DIRA presents clinically with early onset generalized pustulosis, multifocal osteomyelitis, and elevation of acute phase reactants. We evaluated and treated an antibiotic-unresponsive patient with presumed DIRA with recombinant IL-1Ra (anakinra). The patient developed anaphylaxis to anakinra and was subsequently desensitized.
Highlights
Deficiency of interleukin-1-receptor antagonist (DIRA) is a rare autoinflammatory disease clinically characterized by early-onset generalized pustulosis, multifocal osteomyelitis and elevation of acute-phase reactants
DIRA is caused by autosomal recessive loss of function mutations in IL1RN
Submit your manuscript to BioMed Central and take full advantage of:
Summary
Deficiency of interleukin-1-receptor antagonist (DIRA) is a rare autoinflammatory disease clinically characterized by early-onset generalized pustulosis, multifocal osteomyelitis and elevation of acute-phase reactants. DIRA is caused by autosomal recessive loss of function mutations in IL1RN. Seven DIRA causing mutations have been described, including one 175Kb genomic deletion, 4 premature stopcodons, 1 inframe deletion, and 1 missense mutation
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
