{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T03:57:27Z","timestamp":1771646247543,"version":"3.50.1"},"reference-count":13,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,8,9]]},"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>A toddler presented with recurrent subcutaneous abscesses, otitis media and pneumonia, requiring frequent hospitalisations and intravenous antimicrobials. He also had oral thrush and difficulty in gaining weight; hence, an underlying inborn error of immunity (IEI) was strongly suspected. The complete haemogram showed leucocytosis with neutrophilic predominance. Both erythrocyte sedimentation rate and C reactive protein were elevated. <jats:italic>Klebsiella pneumoniae<\/jats:italic> was isolated from blood culture. The dihydrorhodamine-123 assay was negative, and the immunoglobulin profile showed an increased IgG level. Whole exome sequencing revealed a novel homozygous pathogenic variation in the <jats:italic>IL-17RA<\/jats:italic> gene (c.2563G&gt;A, p. Asp855Asn). He showed remarkable improvement following intravenous colistin and fluconazole with complete resolution of abscesses. Thus, it is prudent to consider the possibility of IL-17RA deficiency in children with a history of recurrent abscesses, skin ulcerations and pneumonia after excluding the common groups of IEI.<\/jats:p>","DOI":"10.1136\/bcr-2024-261026","type":"journal-article","created":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T01:05:53Z","timestamp":1724375153000},"page":"e261026","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Recurrent subcutaneous abscesses and pneumonia in a toddler with a novel pathogenic variation in IL-17RA gene"],"prefix":"10.1136","volume":"17","author":[{"given":"Dipyaman","family":"Ghosh","sequence":"first","affiliation":[{"name":"Pediatrics, All India Institute of Medical Sciences, Patna, Bihar, 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