{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T19:42:34Z","timestamp":1770234154547,"version":"3.49.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"the Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82101962"],"award-info":[{"award-number":["82101962"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Immunol Res"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s12026-025-09730-6","type":"journal-article","created":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T06:46:40Z","timestamp":1766040400000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms"],"prefix":"10.1007","volume":"73","author":[{"given":"Zhijuan","family":"Kang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinying","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yixing","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,12,18]]},"reference":[{"issue":"7","key":"9730_CR1","doi-asserted-by":"publisher","first-page":"1473","DOI":"10.1007\/s10875-022-01289-3","volume":"42","author":"SG Tangye","year":"2022","unstructured":"Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human inborn errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee. J Clin Immunol. 2022;42(7):1473\u2013507. https:\/\/doi.org\/10.1007\/s10875-022-01289-3.","journal-title":"J Clin Immunol"},{"issue":"2","key":"9730_CR2","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1007\/s12016-020-08800-x","volume":"61","author":"HH Yu","year":"2021","unstructured":"Yu HH, Yang YH, Chiang BL. Chronic granulomatous disease: a comprehensive review. Clin Rev Allergy Immunol. 2021;61(2):101\u201313. https:\/\/doi.org\/10.1007\/s12016-020-08800-x.","journal-title":"Clin Rev Allergy Immunol"},{"issue":"20","key":"9730_CR3","doi-asserted-by":"publisher","first-page":"2130","DOI":"10.1182\/blood-2018-11-844563","volume":"133","author":"MC Dinauer","year":"2019","unstructured":"Dinauer MC. Inflammatory consequences of inherited disorders affecting neutrophil function. Blood. 2019;133(20):2130\u20139. https:\/\/doi.org\/10.1182\/blood-2018-11-844563.","journal-title":"Blood"},{"key":"9730_CR4","doi-asserted-by":"publisher","first-page":"102587","DOI":"10.1016\/j.bcmd.2021.102587","volume":"90","author":"D Roos","year":"2021","unstructured":"Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, et al. Hematologically important mutations: X-linked chronic granulomatous disease (fourth update). Blood Cells Mol Dis. 2021;90:102587. https:\/\/doi.org\/10.1016\/j.bcmd.2021.102587.","journal-title":"Blood Cells Mol Dis"},{"issue":"6","key":"9730_CR5","doi-asserted-by":"publisher","first-page":"1082","DOI":"10.1016\/j.jaip.2016.03.021","volume":"4","author":"IP Thomsen","year":"2016","unstructured":"Thomsen IP, Smith MA, Holland SM, Creech CB. A comprehensive approach to the management of children and adults with chronic granulomatous disease. J Allergy Clin Immunol Pract. 2016;4(6):1082\u20138. https:\/\/doi.org\/10.1016\/j.jaip.2016.03.021.","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"728","key":"9730_CR6","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1136\/pgmj.62.728.489","volume":"62","author":"D Kelleher","year":"1986","unstructured":"Kelleher D, Bloomfield FJ, Lenehan T, Griffin M, Feighery C, McCann SR. Chronic granulomatous disease presenting as an oculomucocutaneous syndrome mimicking Beh\u00e7et\u2019s syndrome. Postgrad Med J. 1986;62(728):489\u201391. https:\/\/doi.org\/10.1136\/pgmj.62.728.489.","journal-title":"Postgrad Med J"},{"issue":"5","key":"9730_CR7","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1097\/INF.0b013e3182481ed9","volume":"31","author":"I Thomsen","year":"2012","unstructured":"Thomsen I, Dulek DE, Creech CB, Graham TB, Williams JV. Chronic granulomatous disease masquerading as Beh\u00e7et disease: a case report and review of the literature. Pediatr Infect Dis J. 2012;31(5):529\u201331. https:\/\/doi.org\/10.1097\/INF.0b013e3182481ed9.","journal-title":"Pediatr Infect Dis J"},{"issue":"7","key":"9730_CR8","doi-asserted-by":"publisher","first-page":"1227","DOI":"10.1093\/rheumatology\/key445","volume":"58","author":"C Papadopoulou","year":"2019","unstructured":"Papadopoulou C, Omoyinmi E, Standing A, Pain CE, Booth C, D\u2019Arco F, et al. Monogenic mimics of behcet\u2019s disease in the young. Rheumatology (Oxford). 2019;58(7):1227\u201338. https:\/\/doi.org\/10.1093\/rheumatology\/key445.","journal-title":"Rheumatology (Oxford)"},{"issue":"2","key":"9730_CR9","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1067\/mai.2003.58","volume":"111","author":"O Jirapongsananuruk","year":"2003","unstructured":"Jirapongsananuruk O, Malech HL, Kuhns DB, Niemela JE, Brown MR, Anderson-Cohen M, Fleisher TA. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the Dihydrorhodamine 123 assay. J Allergy Clin Immunol. 2003;111(2):374\u20139. https:\/\/doi.org\/10.1067\/mai.2003.58.","journal-title":"J Allergy Clin Immunol"},{"issue":"3","key":"9730_CR10","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1111\/jdv.12107","volume":"28","author":"International Team for the Revision of the International Criteria for Beh\u00e7et\u2019s Disease (ITR-ICBD)","year":"2014","unstructured":"International Team for the Revision of the International Criteria for Beh\u00e7et\u2019s Disease (ITR-ICBD). The international criteria for Beh\u00e7et\u2019s disease (ICBD): a collaborative study of 27 countries on the sensitivity and specificity of the new criteria. J Eur Acad Dermatol Venereol. 2014;28(3):338\u201347. https:\/\/doi.org\/10.1111\/jdv.12107.","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"1","key":"9730_CR11","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1007\/s10875-019-00712-6","volume":"40","author":"KA Sacco","year":"2020","unstructured":"Sacco KA, Smith MJ, Bahna SL, Buchbinder D, Burkhardt J, Cooper MA, et al. NAPDH oxidase-specific flow cytometry allows for rapid genetic triage and classification of novel variants in chronic granulomatous diseased. J Clin Immunol. 2020;40(1):191\u2013202. https:\/\/doi.org\/10.1007\/s10875-019-00712-6.","journal-title":"J Clin Immunol"},{"issue":"1","key":"9730_CR12","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/s41572-021-00301-1","volume":"7","author":"Y Yazici","year":"2021","unstructured":"Yazici Y, Hatemi G, Bodaghi B, Cheon JH, Suzuki N, Ambrose N, Yazici H. Beh\u00e7et syndrome. Nat Rev Dis Primers. 2021;7(1):67. https:\/\/doi.org\/10.1038\/s41572-021-00301-1.","journal-title":"Nat Rev Dis Primers"},{"key":"9730_CR13","doi-asserted-by":"publisher","first-page":"108381","DOI":"10.1016\/j.clim.2020.108381","volume":"214","author":"CE Pain","year":"2020","unstructured":"Pain CE. Juvenile-onset Beh\u00e7et\u2019s syndrome and mimics. Clin Immunol. 2020;214:108381. https:\/\/doi.org\/10.1016\/j.clim.2020.108381.","journal-title":"Clin Immunol"},{"issue":"2","key":"9730_CR14","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1007\/s10875-023-01610-8","volume":"44","author":"SJ Olyha","year":"2024","unstructured":"Olyha SJ, O\u2019Connor SK, Kribis M, Bucklin ML, Uthaya Kumar DB, Tyler PM, et al. Deficiency in ELF4, X-linked: a Monogenic disease entity resembling Beh\u00e7et\u2019s syndrome and inflammatory bowel disease. J Clin Immunol. 2024;44(2):44. https:\/\/doi.org\/10.1007\/s10875-023-01610-8.","journal-title":"J Clin Immunol"},{"issue":"5","key":"9730_CR15","doi-asserted-by":"publisher","first-page":"1156","DOI":"10.1016\/j.jaci.2013.05.039","volume":"132","author":"MY K\u00f6ker","year":"2013","unstructured":"K\u00f6ker MY, Camc\u0131o\u011flu Y, van Leeuwen K, K\u0131l\u0131\u00e7 S\u015e, Barlan I, Y\u0131lmaz M, et al. Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. J Allergy Clin Immunol. 2013;132(5):1156\u2013e11635. https:\/\/doi.org\/10.1016\/j.jaci.2013.05.039.","journal-title":"J Allergy Clin Immunol"},{"key":"9730_CR16","doi-asserted-by":"publisher","first-page":"108796","DOI":"10.1016\/j.clim.2021.108796","volume":"229","author":"H Ziaei","year":"2021","unstructured":"Ziaei H, Tonkaboni A, Shamshiri A, Rezaei N. Oral manifestations of patients with inherited defect in phagocyte number or function a systematic review. Clin Immunol. 2021;229:108796. https:\/\/doi.org\/10.1016\/j.clim.2021.108796.","journal-title":"Clin Immunol"},{"issue":"4","key":"9730_CR17","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1007\/s10875-021-01037-z","volume":"41","author":"J Aluri","year":"2021","unstructured":"Aluri J, Cooper MA. Genetic mosaicism as a cause of inborn errors of immunity. J Clin Immunol. 2021;41(4):718\u201328. https:\/\/doi.org\/10.1007\/s10875-021-01037-z.","journal-title":"J Clin Immunol"},{"issue":"1","key":"9730_CR18","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1182\/blood-2004-02-0675","volume":"105","author":"B Wolach","year":"2005","unstructured":"Wolach B, Scharf Y, Gavrieli R, de Boer M, Roos D. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. Blood. 2005;105(1):61\u20136. https:\/\/doi.org\/10.1182\/blood-2004-02-0675.","journal-title":"Blood"},{"issue":"1","key":"9730_CR19","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.gene.2012.01.019","volume":"497","author":"M Yamada","year":"2012","unstructured":"Yamada M, Okura Y, Suzuki Y, Fukumura S, Miyazaki T, Ikeda H, et al. Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells. Gene. 2012;497(1):110\u20135. https:\/\/doi.org\/10.1016\/j.gene.2012.01.019.","journal-title":"Gene"},{"issue":"4","key":"9730_CR20","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1002\/humu.22519","volume":"35","author":"M de Boer","year":"2014","unstructured":"de Boer M, van Leeuwen K, Geissler J, Weemaes CM, van den Berg TK, Kuijpers TW, et al. Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene. Hum Mutat. 2014;35(4):486\u201396. https:\/\/doi.org\/10.1002\/humu.22519.","journal-title":"Hum Mutat"},{"issue":"1","key":"9730_CR21","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1038\/s41467-019-14275-y","volume":"11","author":"EG Serra","year":"2020","unstructured":"Serra EG, Schwerd T, Moutsianas L, Cavounidis A, Fachal L, Pandey S, et al. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nat Commun. 2020;11(1):995. https:\/\/doi.org\/10.1038\/s41467-019-14275-y.","journal-title":"Nat Commun"},{"issue":"1","key":"9730_CR22","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1007\/s10875-022-01347-w","volume":"43","author":"L Yu","year":"2023","unstructured":"Yu L, Li W, Lv G, Sun G, Yang L, Chen J, et al. De Novo somatic mosaicism of CYBB caused by intronic LINE-1 element insertion resulting in chronic granulomatous disease. J Clin Immunol. 2023;43(1):88\u2013100. https:\/\/doi.org\/10.1007\/s10875-022-01347-w.","journal-title":"J Clin Immunol"}],"container-title":["Immunologic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12026-025-09730-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12026-025-09730-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12026-025-09730-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T07:28:37Z","timestamp":1770190117000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12026-025-09730-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["9730"],"URL":"https:\/\/doi.org\/10.1007\/s12026-025-09730-6","relation":{},"ISSN":["0257-277X","1559-0755"],"issn-type":[{"value":"0257-277X","type":"print"},{"value":"1559-0755","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"18 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 December 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the Medical Ethics Committee of Hunan Children\u2019s Hospital (Approval number: HCHLL-2024-432).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed consent was obtained from the child\u2019s parents in accordance with the Declaration of Helsinki.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Written informed consent was obtained from all participants included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"173"}}