The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin‐1 receptor antagonist

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...

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Veröffentlicht in:	Arthritis & rheumatology (Hoboken, N.J.) N.J.), 2011-12, Vol.63 (12), p.4018-4022
Hauptverfasser:	Stenerson, Matthew, Dufendach, Kevin, Aksentijevich, Ivona, Brady, Jillian, Austin, Jared, Reed, Ann M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Antirheumatic Agents - therapeutic use Biological and medical sciences Diseases of the osteoarticular system Drug therapy Drug Therapy, Combination Exons - genetics Hereditary Autoinflammatory Diseases - diagnosis Hereditary Autoinflammatory Diseases - drug therapy Hereditary Autoinflammatory Diseases - genetics Heterozygote Humans Infant, Newborn Interleukin 1 Receptor Antagonist Protein - genetics Interleukin 1 Receptor Antagonist Protein - therapeutic use Male Medical sciences Mutation Mutation - genetics Treatment Outcome
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