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PKC\u03b4 is involved in the intracellular production of reactive oxidative species (ROS).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Material and Methods<\/jats:title>\n                <jats:p>We studied a 5-year old girl presenting with a history of <jats:italic>Burkholderia cepacia<\/jats:italic> infection. She had no history of autoimmunity, lymphocyte counts were normal, and no auto-antibodies were detected in her plasma. We performed a targeted panel analysis of 407 immunity-related genes and immunological investigations of the underlying genetic condition in this patient.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Consistent with a history suggestive of chronic granulomatous disease (CGD), oxidative burst impairment was observed in the patient\u2019s circulating phagocytes in a dihydrorhodamine 123 (DHR) assay. However, targeted genetic panel analysis identified no candidate variants of known CGD-causing genes. Two heterozygous candidate variants were detected in <jats:italic>PRKCD:<\/jats:italic> c.285C\u2009&gt;\u2009A (p.C95*) and c.376G\u2009&gt;\u2009T (p.D126Y). The missense variant was also predicted to cause abnormal splicing, as it is located at the splice donor site of exon 5. TOPO-TA cloning confirmed that exon 5 was completely skipped, resulting in a truncated protein. No PKC\u03b4 protein was detected in the patient\u2019s neutrophils and monocyte-derived macrophages. The monocyte-derived macrophages of the patient produced abnormally low levels of ROS, as shown in an Amplex Red assay.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>PKC\u03b4 deficiency should be considered in young patients with CGD-like clinical manifestations and abnormal DHR assay results, even in the absence of clinical and biological manifestations of autoimmunity.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10875-022-01268-8","type":"journal-article","created":{"date-parts":[[2022,5,18]],"date-time":"2022-05-18T22:03:13Z","timestamp":1652911393000},"page":"1244-1253","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKC\u03b4 Deficiency"],"prefix":"10.1007","volume":"42","author":[{"given":"Anna-Lena","family":"Neehus","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Tuano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Le Voyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarada L.","family":"Nandiwada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kruthi","family":"Murthy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Puel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Chinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3439-2482","authenticated-orcid":false,"given":"Jacinta","family":"Bustamante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,5,18]]},"reference":[{"key":"1268_CR1","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1158\/1541-7786.MCR-06-0255","volume":"5","author":"R Gomel","year":"2007","unstructured":"Gomel R, Xiang C, Finniss S, Lee HK, Lu W, Okhrimenko H, et al. 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The experiments were performed in the USA and France, in accordance with local regulations, and with the approval of the IRB Necker Hospital for Sick Children, France.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Written informed consent for participation in the study was obtained from the patient\u2019s parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Consent to publish was obtained from the patient\u2019s parents. All the authors approved the final version of the manuscript.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}