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An abnormal neutrophil respiratory oxidative burst, but normal protein expression of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system, led to the identification of myeloperoxidase deficiency. DiGeorge syndrome has a heterogeneous clinical phenotype and may not be an isolated diagnosis. It raises awareness of the possibility of two rare diseases occurring in a single patient and emphasises that even when a rare diagnosis is confirmed, if the clinical features remain atypical or unresponsive, then further investigation for additional cofactors is warranted.<\/jats:p>","DOI":"10.1136\/bcr-2019-232741","type":"journal-article","created":{"date-parts":[[2020,2,27]],"date-time":"2020-02-27T04:15:28Z","timestamp":1582776928000},"page":"e232741","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency"],"prefix":"10.1136","volume":"13","author":[{"given":"Simona","family":"Abraityt\u0117","sequence":"first","affiliation":[{"name":"Lithuanian University of Health Sciences, Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Kotsi","sequence":"additional","affiliation":[{"name":"General Hospital of Kalamata, Antikalamos, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa Anne","family":"Devlin","sequence":"additional","affiliation":[{"name":"Regional Immunology Service, Royal Victoria Hospital, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John David Moore","family":"Edgar","sequence":"additional","affiliation":[{"name":"Immunology, St James's Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,2,26]]},"reference":[{"key":"2025082803180576000_13.2.e232741.1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/nrdp.2015.71","article-title":"22Q11.2 deletion syndrome","volume":"1","author":"McDonald-McGinn","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"2025082803180576000_13.2.e232741.2","doi-asserted-by":"publisher","DOI":"10.1189\/jlb.0712349"},{"key":"2025082803180576000_13.2.e232741.3","unstructured":"Pahwa R , Jialal I . 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