Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN
| Autor: | Leonardo Oliveira Mendonça, AA de Jesus, Deepti Suri, Louise Malle, Settara C. Chandrasekharappa, R. Goldbach-Mansky, FX Donavan, G Montealegre, D. Chapelle |
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| Rok vydání: | 2015 |
| Předmět: |
musculoskeletal diseases
medicine.medical_specialty Anakinra medicine.drug_class business.industry Osteomyelitis Acute-phase protein Receptor antagonist medicine.disease Bioinformatics Pustulosis Rheumatology Interleukin 1 receptor antagonist Internal medicine Poster Presentation Pediatrics Perinatology and Child Health Immunology medicine Immunology and Allergy Pediatrics Perinatology and Child Health medicine.symptom business Anaphylaxis medicine.drug |
| Zdroj: | Pediatric Rheumatology Online Journal |
| ISSN: | 1546-0096 |
| DOI: | 10.1186/1546-0096-13-s1-p143 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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