التفاصيل البيبلوغرافية
| العنوان: |
The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. |
| المؤلفون: |
Stenerson, Matthew1, Dufendach, Kevin1, Aksentijevich, Ivona2, Brady, Jillian2, Austin, Jared3, Reed, Ann M.1 |
| المصدر: |
Arthritis & Rheumatism. Dec2011, Vol. 63 Issue 12, p4018-4022. 5p. |
| مصطلحات موضوعية: |
*AUTOIMMUNE disease diagnosis, *AUTOIMMUNE disease treatment, *BLOOD testing, *INTERLEUKINS, *MICROBIAL sensitivity tests, *GENETIC mutation |
| مستخلص: |
Interleukin-1 receptor antagonist (IL-1Ra) deficiency is a rare autoinflammatory disease involving neonatal onset of pustulosis, periostitis, and sterile osteomyelitis. We report the case of a 2-week-old male who presented with a swollen, erythematous left index finger and elevated serum markers of inflammation. He later developed cyclical fevers, diffuse pustular skin lesions, and thrombus formation. After not responding to broad-spectrum antimicrobial therapy and achieving only moderate success with systemic steroid therapy, he was ultimately treated with recombinant IL-1Ra, anakinra, and experienced significant clinical improvement. Sequencing of his IL1RN gene revealed that the patient was compound heterozygous for a known mutation (E77X) associated with IL-1Ra deficiency and a novel mutation in exon 2 of the gene (c.140delC; p.T47TfsX4). His case highlights IL-1Ra deficiency as an autoinflammatory disease that is distinct from neonatal-onset multisystem inflammatory disease but that also responds well to anakinra. Our patient is the first reported compound heterozygote for E77X and the novel mutation in exon 2 of the gene, the latter of which adds to what will surely be a growing database of pathologic mutations in IL1RN. [ABSTRACT FROM AUTHOR] |
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