{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:18:52Z","timestamp":1780471132970,"version":"3.54.1"},"reference-count":12,"publisher":"Necmettin Erbakan University Press","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deficiency of interleukin-1 receptor antagonist is a rare autoinflammatory disease that affects infants early in life. It often presents with systemic inflammation, skin and bone involvement. We present a 5-month-old boy who was hospitalized due to generalized erythematous pustular eruption with secondary impetigo, cellulitis, bronchiolitis, and elevated inflammatory markers. The patient was unresponsive to multiple courses of intravenous antibiotics, systemic, and topical steroid medications. The patient was evaluated by dermatology and rheumatology services among other subspecialities. Skin biopsy showed changes consistent with psoriasiform dermatitis, while bone scans showed multifocal osteomyelitis. The patient was started empirically on anakinra with improvement at 72\u2009hours upon administration. This is one of the youngest reported case in the literature to be started on anakinra empirically prior to genetic confirmation of the mutation. A comprehensive literature review revealed that approximately 20 genetically confirmed patients, including our patient, have been reported with this genetic disease. It is imperative to recognize this disease early to achieve adequate response and remission. Therefore, clinical symptoms and the associated differential diagnosis for this disease should be constantly reassessed and reviewed by pediatricians and subspecialists to detect the disease as early as possible and reduce the high morbidity and mortality associated with delayed diagnosis and treatment.<\/jats:p>","DOI":"10.1055\/s-0041-1724113","type":"journal-article","created":{"date-parts":[[2021,3,3]],"date-time":"2021-03-03T18:51:36Z","timestamp":1614797496000},"page":"227-232","source":"Crossref","is-referenced-by-count":5,"title":["Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians"],"prefix":"10.53391","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8423-3981","authenticated-orcid":false,"given":"Andrea","family":"Rivera-Sepulveda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Emergency Medicine, Nemours Children's Hospital, Orlando, Florida, United States"},{"name":"Department of Pediatrics, San Jorge Children's Hospital, San Juan, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Col\u00f3n-Font\u00e1nez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, San Jorge Children's Hospital, San Juan, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maricarmen","family":"L\u00f3pez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, San Jorge Children's Hospital, San Juan, Puerto Rico"},{"name":"Division of Pediatric Rheumatology, Albany Medical Center, Albany, New York City, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilberto","family":"Puig-Ramos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, San Jorge Children's Hospital, San Juan, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2021,3,3]]},"reference":[{"issue":"23","key":"ref1","doi-asserted-by":"crossref","first-page":"2426","DOI":"10.1056\/NEJMoa0807865","article-title":"An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist","volume":"360","author":"I Aksentijevich","year":"2009","journal-title":"N Engl J Med"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1186\/1750-1172-8-162","article-title":"The expanding spectrum of rare monogenic autoinflammatory diseases","volume":"8","author":"I Touitou","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"03","key":"ref3","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1001\/archdermatol.2011.3014","article-title":"DIRA, DITRA, and new insights into pathways of skin inflammation: what's in a name?","volume":"148","author":"E W Cowen","year":"2012","journal-title":"Arch Dermatol"},{"issue":"03","key":"ref4","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1111\/j.1365-2249.2011.04533.x","article-title":"Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1","volume":"167","author":"R Goldbach-Mansky","year":"2012","journal-title":"Clin Exp Immunol"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1084\/jem.136.1.128","article-title":"Potentiation of the T-lymphocyte response to mitogens. 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