{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:37:19Z","timestamp":1792035439708,"version":"4.4.0"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T00:00:00Z","timestamp":1701993600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81971547"],"award-info":[{"award-number":["81971547"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"R & D Program of Beijing Municipal Education Commission","award":["KZ202210025030"],"award-info":[{"award-number":["KZ202210025030"]}]},{"name":"Beijing Hospitals Authority\u2019s Ascent Plan","award":["DFL20221001"],"award-info":[{"award-number":["DFL20221001"]}]},{"DOI":"10.13039\/100007452","name":"Wu Jieping Medical Foundation","doi-asserted-by":"publisher","award":["320.6750.2022-03-53"],"award-info":[{"award-number":["320.6750.2022-03-53"]}],"id":[{"id":"10.13039\/100007452","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Chronic granulomatous disease (CGD) is a heterogeneous primary immunodeficiency. X-linked (XL) CGD caused by gene defects of CYBB is the most prevalent type of CGD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We aim to understand the clinical and molecule features of XL-CGD secondary to skewed X-chromosome inactivation (XCI) in female.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We retrospectively reviewed the medical records of a female patient diagnosed with XL-CGD. Flow cytometry was used to detect the respiratory burst function. After restriction enzyme digestion of DNA, XCI was calculated by detecting fluorescent PCR products with capillary electrophoresis. The previously published female XL-CGD cases secondary to skewed XCI was summarized.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Clinical data were available for 15 female subjects. The median age of diagnosis was 16 years. Consistent with XL-CGD in males, infection was the most frequent manifestation in the female patients. Catalase-positive pathogens including Serratia marcescens and Staphylococcus aureus infections were the most common pathogens. Autoimmune\/autoinflammation manifestations were observed in five patients. Dihydrorhodamine (DHR) assay showed that median %DHR+ values were 6.5% and the values varying with age were observed in 2 patients. All patients had a skewing XCI and there was no consistency between the daughter and carrier mother. Anti-infective treatment was effective in majority and there was no mortality reported in XL-CGD female patients to date.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>XL-CGD should not be neglected in female patients manifested as CGD phenotype and it is necessary to make periodic clinical evaluation of CGD female carriers as the neutrophil oxidative function may decline with aging and increase the risk for infection.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/cei\/uxad129","type":"journal-article","created":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T04:21:21Z","timestamp":1702095681000},"page":"261-267","source":"Crossref","is-referenced-by-count":8,"title":["X-linked chronic granulomatous disease secondary to skewed X-chromosome inactivation in female patients"],"prefix":"10.1093","volume":"215","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5342-0226","authenticated-orcid":false,"given":"Yue","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Immunology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health , Beijing , People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhou","family":"Shu","sequence":"additional","affiliation":[{"name":"Department of Immunology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health , Beijing , People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Immunology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health , Beijing , People's Republic of 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianyou","family":"Wang","sequence":"additional","affiliation":[{"name":"Hematology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health , Beijing , People's Republic of China"},{"name":"Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics, Capital Medical University , Beijing , People's Republic of China"},{"name":"Key Laboratory of Major Diseases in Children, Ministry of Education , Beijing , People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huawei","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Immunology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health , Beijing , People's Republic of China"},{"name":"Key Laboratory of Major Diseases in Children, Ministry of Education , Beijing , People's Republic of 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