Deficiency of the interleukin-1 receptor antagonist: Characterizing the molecular consequences of loss-of-function IL1RN variants from structural and biochemical evidence
Deficiency of interleukin-1 receptor antagonist (DIRA) is a rare autoinflammatory disease with neonatal onset defined by periostitis, pustulosis, and sterile osteomyelitis. DIRA is caused by biallelic loss-of-function mutations in the IL1RN gene, including 16 cytogenetic abnormalities to date. Due t...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-06-01
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| Series: | Clinical Immunology Communications |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772613425000058 |
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