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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Ulusoy, Ezgi Karaca, Neslihan Edeer El-Shanti, Hatem Kilicoglu, Erhan Aksu, Guzide Kutukculer, Necil |
| Abstract | Introduction Interleukin-1 receptor antagonist deficiency is a rare autoinflammatory disease involving neonatal onset of pustulosis, periostitis, and sterile osteomyelitis. The underlying genetic abnormality involves a recessive mutation in IL1RN, which encodes interleukin-1 receptor antagonist. In this case report, we describe a case of a 12-year-old Turkish girl who initially was presented at 1 year of age, older than previously reported children with interleukin-1 receptor antagonist deficiency, and with a novel mutation, p.R26X, in ILR1N. Case presentation Our patient developed pustular cutaneous lesions at 1 year of age. At the age of 12 years, she was hospitalized for arthralgia of her knees, elbows, and ankles and arthritis of the left knee, with simultaneous pustular cutaneous lesions. She was admitted to the intensive care unit because of septicemia and respiratory insufficiency during follow-up. A skin biopsy of hyperpigmented lesions demonstrated neutrophil infiltration in the epidermis and subepidermal pustular dermatosis. Interleukin-1 receptor antagonist deficiency was suspected, and genetic analysis revealed a homozygous mutation (p.R26X) in IL1RN, which led to a diagnosis of interleukin-1 receptor antagonist deficiency. Treatment with canakinumab (recombinant human anti-human interleukin-1β monoclonal antibody) 150mg subcutaneously once every 6 weeks was initiated. Our patient did not experience further cutaneous lesions or arthritis. Her post-treatment inflammatory markers were normal; she gained weight; and she was able to walk independently. Conclusions In this case report, we describe a patient with interleukin-1 receptor antagonist deficiency who responded excellently to canakinumab treatment. We believe more awareness is warranted for interleukin-1 receptor antagonist deficiency in children. It is possible that the mutation in our patient was a founder mutation that may lead to diagnosis of additional cases in Turkey. |
| Related Links | https://jmedicalcasereports.biomedcentral.com/counter/pdf/10.1186/s13256-015-0618-4.pdf |
| Ending Page | 4 |
| Page Count | 4 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17521947 |
| DOI | 10.1186/s13256-015-0618-4 |
| Journal | Journal of Medical Case Reports |
| Issue Number | 1 |
| Volume Number | 9 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2015-06-23 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health General Practice Family Medicine Primary Care Medicine Surgical Oncology Internal Medicine Autoinflammation Canakinumab Interleukin-1 receptor antagonist deficiency Medicine/Public Health |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Medicine |
| Journal Impact Factor | 0.9/2023 |
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