{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T12:29:53Z","timestamp":1767356993297,"version":"3.48.0"},"reference-count":15,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,10,21]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>Myeloperoxidase (MPO) deficiency is a rare inherited neutrophil disorder associated with an increased risk of infections. We present a case of a male child with no underlying medical conditions who presented with a difficult-to-manage renal abscess, enterococcal urosepsis and an abnormal dihydro-rhodamine 123 test. On genetic evaluation, he was found to have a homozygous mutation in the MPO gene, leading to the diagnosis of MPO deficiency. This case highlights the clinical importance of MPO activity in the clearance of specific microorganisms. MPO deficiency should be considered in the differential diagnosis of paediatric patients with difficult-to-manage abscesses.<\/jats:p>","DOI":"10.1136\/bcr-2025-269164","type":"journal-article","created":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T11:20:59Z","timestamp":1764847259000},"page":"e269164","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Abnormal DHR is not always synonymous with a diagnosis of chronic granulomatous disease"],"prefix":"10.1136","volume":"18","author":[{"given":"Sundus Mohammed Wali M","family":"Noorsaeed","sequence":"first","affiliation":[{"name":"Department of Paediatrics Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza","family":"Alizadehfar","sequence":"additional","affiliation":[{"name":"Division of Paediatric Allergy, Clinical Immunology and Dermatology, Department of Paediatrics, McGill University Health Centre, Montreal, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4018-1419","authenticated-orcid":false,"given":"Bruce D","family":"Mazer","sequence":"additional","affiliation":[{"name":"Division of Paediatric Allergy, Clinical Immunology and Dermatology, Department of Paediatrics, McGill University Health Centre, Montreal, Quebec, Canada"},{"name":"The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine T","family":"McCusker","sequence":"additional","affiliation":[{"name":"Division of Paediatric Allergy, Clinical Immunology and Dermatology, Department of Paediatrics, McGill University Health Centre, Montreal, Quebec, Canada"},{"name":"The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,12,4]]},"reference":[{"key":"2026010204250643000_18.12.e269164.1","doi-asserted-by":"publisher","DOI":"10.1007\/s001090050267"},{"key":"2026010204250643000_18.12.e269164.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.freeradbiomed.2013.04.009"},{"key":"2026010204250643000_18.12.e269164.3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.211190298"},{"key":"2026010204250643000_18.12.e269164.4","unstructured":"Roma P , Pranav M , Ishwarlal J . Myeloperoxidase deficiency. Treasure Island (FL): StatPearls Publishing, 2025."},{"key":"2026010204250643000_18.12.e269164.5","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0042984","article-title":"Influences of chloride and hypochlorite on neutrophil extracellular trap formation","volume":"7","author":"Akong-Moore","year":"2012","journal-title":"PLoS One"},{"key":"2026010204250643000_18.12.e269164.6","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-06-290171"},{"key":"2026010204250643000_18.12.e269164.7","doi-asserted-by":"publisher","DOI":"10.1111\/imr.13308"},{"key":"2026010204250643000_18.12.e269164.8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.080074897"},{"key":"2026010204250643000_18.12.e269164.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2010.10.013"},{"key":"2026010204250643000_18.12.e269164.10","doi-asserted-by":"crossref","first-page":"3543","DOI":"10.1016\/j.jaip.2020.07.012","article-title":"Acetaminophen Inhibits the Neutrophil Oxidative Burst: Implications for Diagnostic Testing","volume":"8","author":"Almutairi","year":"2020","journal-title":"J Allergy Clin Immunol Pract"},{"key":"2026010204250643000_18.12.e269164.11","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.1035673","article-title":"Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review","volume":"13","author":"Sun","year":"2022","journal-title":"Front Genet"},{"key":"2026010204250643000_18.12.e269164.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.04.049"},{"key":"2026010204250643000_18.12.e269164.13","doi-asserted-by":"crossref","DOI":"10.1186\/s42269-022-00973-z","article-title":"Systemic paracoccidioidomycosis in a patient with enzymatic myeloperoxidase deficiency and acute lymphoblastic leukemia: case report","volume":"46","author":"Hoyos","year":"2022","journal-title":"Bull Natl Res Cent"},{"key":"2026010204250643000_18.12.e269164.14","unstructured":"SM LJH . In: ER S , ed. Chronic granulomatous disease. 2020."},{"key":"2026010204250643000_18.12.e269164.15","doi-asserted-by":"publisher","DOI":"10.1093\/jpids\/piy007"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-269164","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T12:25:15Z","timestamp":1767356715000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-269164"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":15,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,12,4]]},"published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1136\/bcr-2025-269164"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-269164","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,12]]}}}