{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T01:34:15Z","timestamp":1778808855998,"version":"3.51.4"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,8,23]],"date-time":"2022-08-23T00:00:00Z","timestamp":1661212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,8,23]],"date-time":"2022-08-23T00:00:00Z","timestamp":1661212800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"Graduate Mentor Team of Chongqing Municipal Education Commission","award":["2019-09-66"],"award-info":[{"award-number":["2019-09-66"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070135"],"award-info":[{"award-number":["82070135"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018551","name":"Science and Technology Innovation Talents in Universities of Henan Province","doi-asserted-by":"publisher","award":["W0100"],"award-info":[{"award-number":["W0100"]}],"id":[{"id":"10.13039\/501100018551","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2023,1]]},"DOI":"10.1007\/s10875-022-01347-w","type":"journal-article","created":{"date-parts":[[2022,8,23]],"date-time":"2022-08-23T09:03:05Z","timestamp":1661245385000},"page":"88-100","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease"],"prefix":"10.1007","volume":"43","author":[{"given":"Lang","family":"Yu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhui","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ge","family":"Lv","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gan","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junjie","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan","family":"Ding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiyong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuemei","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunfei","family":"An","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2054-8711","authenticated-orcid":false,"given":"Xiaodong","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,8,23]]},"reference":[{"issue":"2","key":"1347_CR1","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"},{"key":"1347_CR2","doi-asserted-by":"publisher","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":"Suppl 1","key":"1347_CR3","doi-asserted-by":"publisher","first-page":"S67","DOI":"10.1007\/s10875-007-9160-5","volume":"28","author":"SD Rosenzweig","year":"2008","unstructured":"Rosenzweig SD. Inflammatory manifestations in chronic granulomatous disease (CGD). J Clin Immunol. 2008;28(Suppl 1):S67-72. https:\/\/doi.org\/10.1007\/s10875-007-9160-5.","journal-title":"J Clin Immunol"},{"issue":"1","key":"1347_CR4","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/s12016-009-8136-z","volume":"38","author":"SM Holland","year":"2010","unstructured":"Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3\u201310. https:\/\/doi.org\/10.1007\/s12016-009-8136-z.","journal-title":"Clin Rev Allergy Immunol"},{"issue":"1","key":"1347_CR5","doi-asserted-by":"publisher","first-page":"4447","DOI":"10.1038\/s41467-018-06964-x","volume":"9","author":"GA Arnadottir","year":"2018","unstructured":"Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, et al. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. Nat Commun. 2018;9(1):4447. https:\/\/doi.org\/10.1038\/s41467-018-06964-x.","journal-title":"Nat Commun"},{"key":"1347_CR6","doi-asserted-by":"publisher","unstructured":"Thomas DC, Charbonnier LM, Schejtman A, Aldhekri H, Coomber EL, Dufficy ER, et al. EROS\/CYBC1 mutations: decreased NADPH oxidase function and chronic granulomatous disease. J Allergy Clin Immunol. 2019;143(2):782\u20135 e1. https:\/\/doi.org\/10.1016\/j.jaci.2018.09.019","DOI":"10.1016\/j.jaci.2018.09.019"},{"key":"1347_CR7","doi-asserted-by":"publisher","unstructured":"Neehus A, Moriya K, Nieto-Patl\u00e1n A, Le Voyer T, L\u00e9vy R, \u00d6zen A, et al. Impaired respiratory burst contributes to infections in PKC\u03b4-deficient patients. The Journal of experimental medicine 2021;218(9). https:\/\/doi.org\/10.1084\/jem.20210501","DOI":"10.1084\/jem.20210501"},{"key":"1347_CR8","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01268-8","author":"A Neehus","year":"2022","unstructured":"Neehus A, Tuano K, Le Voyer T, Nandiwada S, Murthy K, Puel A, et al. Chronic granulomatous disease-like presentation of a child with autosomal recessive PKC\u03b4 deficiency. J Clin Immunol. 2022. https:\/\/doi.org\/10.1007\/s10875-022-01268-8.","journal-title":"J Clin Immunol"},{"issue":"8","key":"1347_CR9","doi-asserted-by":"publisher","first-page":"762","DOI":"10.1007\/s10875-019-00680-x","volume":"39","author":"S Wang","year":"2019","unstructured":"Wang S, Wang T, Xiang Q, Xiao M, Cao Y, Xu H, et al. Clinical and molecular features of chronic granulomatous disease in mainland China and a XL-CGD female infant patient after prenatal diagnosis. J Clin Immunol. 2019;39(8):762\u201375. https:\/\/doi.org\/10.1007\/s10875-019-00680-x.","journal-title":"J Clin Immunol"},{"issue":"6822","key":"1347_CR10","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1038\/35057062","volume":"409","author":"ES Lander","year":"2001","unstructured":"Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409(6822):860\u2013921. https:\/\/doi.org\/10.1038\/35057062.","journal-title":"Nature"},{"issue":"3","key":"1347_CR11","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/s0092-8674(02)00839-5","volume":"110","author":"D Symer","year":"2002","unstructured":"Symer D, Connelly C, Szak S, Caputo E, Cost G, Parmigiani G, et al. Human l1 retrotransposition is associated with genetic instability in vivo. Cell. 2002;110(3):327\u201338. https:\/\/doi.org\/10.1016\/s0092-8674(02)00839-5.","journal-title":"Cell"},{"issue":"10","key":"1347_CR12","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1038\/nrg2640","volume":"10","author":"R Cordaux","year":"2009","unstructured":"Cordaux R, Batzer MA. The impact of retrotransposons on human genome evolution. Nat Rev Genet. 2009;10(10):691\u2013703. https:\/\/doi.org\/10.1038\/nrg2640.","journal-title":"Nat Rev Genet"},{"issue":"12","key":"1347_CR13","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1038\/s41576-019-0165-8","volume":"20","author":"LM Payer","year":"2019","unstructured":"Payer LM, Burns KH. Transposable elements in human genetic disease. Nat Rev Genet. 2019;20(12):760\u201372. https:\/\/doi.org\/10.1038\/s41576-019-0165-8.","journal-title":"Nat Rev Genet"},{"issue":"Suppl 2","key":"1347_CR14","doi-asserted-by":"publisher","DOI":"10.1111\/eci.12953","volume":"48","author":"D Roos","year":"2018","unstructured":"Roos D, de Boer M. Retrotransposable genetic elements causing neutrophil defects. Eur J Clin Invest. 2018;48(Suppl 2): e12953. https:\/\/doi.org\/10.1111\/eci.12953.","journal-title":"Eur J Clin Invest"},{"key":"1347_CR15","doi-asserted-by":"publisher","unstructured":"Luo X, Liu Q, Jiang J, Tang W, Ding Y, Zhou L, et al. Characterization of a cohort of patients with LIG4 deficiency reveals the founder effect of p.R278L, unique to the Chinese population. Front Immunol. 2021;12:695993. https:\/\/doi.org\/10.3389\/fimmu.2021.695993","DOI":"10.3389\/fimmu.2021.695993"},{"key":"1347_CR16","doi-asserted-by":"publisher","unstructured":"Sottini A, Serana F, Bertoli D, Chiarini M, Valotti M, Vaglio Tessitore M, et al. Simultaneous quantification of T-cell receptor excision circles (TRECs) and K-deleting recombination excision circles (KRECs) by real-time PCR. J Vis Exp. 2014(94). https:\/\/doi.org\/10.3791\/52184","DOI":"10.3791\/52184"},{"key":"1347_CR17","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1007\/978-1-62703-845-4_21","volume":"1124","author":"J Bylund","year":"2014","unstructured":"Bylund J, Bjornsdottir H, Sundqvist M, Karlsson A, Dahlgren C. Measurement of respiratory burst products, released or retained, during activation of professional phagocytes. Methods Mol Biol. 2014;1124:321\u201338. https:\/\/doi.org\/10.1007\/978-1-62703-845-4_21.","journal-title":"Methods Mol Biol"},{"issue":"6","key":"1347_CR18","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1002\/jlb.4a0118-030rr","volume":"104","author":"A Khandagale","year":"2018","unstructured":"Khandagale A, Lazzaretto B, Carlsson G, Sundin M, Shafeeq S, R\u00f6mling U, et al. JAGN1 is required for fungal killing in neutrophil extracellular traps: implications for severe congenital neutropenia. J Leukoc Biol. 2018;104(6):1199\u2013213. https:\/\/doi.org\/10.1002\/jlb.4a0118-030rr.","journal-title":"J Leukoc Biol"},{"issue":"1","key":"1347_CR19","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/s10875-021-01152-x","volume":"42","author":"SG Tangye","year":"2022","unstructured":"Tangye SG, Gray PE, Pillay BA, Yap JY, Figgett WA, Reeves J, et al. Hyper-IgE syndrome due to an elusive novel intronic homozygous variant in DOCK8. J Clin Immunol. 2022;42(1):119\u201329. https:\/\/doi.org\/10.1007\/s10875-021-01152-x.","journal-title":"J Clin Immunol"},{"key":"1347_CR20","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/978-1-61779-442-1_14","volume":"827","author":"K Miyano","year":"2012","unstructured":"Miyano K, Sumimoto H. Assessment of the role for Rho family GTPases in NADPH oxidase activation. Methods Mol Biol. 2012;827:195\u2013212. https:\/\/doi.org\/10.1007\/978-1-61779-442-1_14.","journal-title":"Methods Mol Biol"},{"issue":"5237","key":"1347_CR21","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1126\/science.270.5237.797","volume":"270","author":"SM Russell","year":"1995","unstructured":"Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, et al. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science. 1995;270(5237):797\u2013800. https:\/\/doi.org\/10.1126\/science.270.5237.797.","journal-title":"Science"},{"key":"1347_CR22","doi-asserted-by":"publisher","unstructured":"Ding Y, Zhou L, Xia Y, Wang W, Wang Y, Li L, et al. Reference values for peripheral blood lymphocyte subsets of healthy children in China. J Allergy Clin Immunol. 2018;142(3):970\u20133 e8. https:\/\/doi.org\/10.1016\/j.jaci.2018.04.022","DOI":"10.1016\/j.jaci.2018.04.022"},{"key":"1347_CR23","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.3389\/fimmu.2020.01411","volume":"11","author":"JSY Kwok","year":"2020","unstructured":"Kwok JSY, Cheung SKF, Ho JCY, Tang IWH, Chu PWK, Leung EYS, et al. Establishing simultaneous T cell receptor excision circles (TREC) and K-deleting recombination excision circles (KREC) quantification assays and laboratory reference intervals in healthy individuals of different age groups in Hong Kong. Front Immunol. 2020;11:1411. https:\/\/doi.org\/10.3389\/fimmu.2020.01411.","journal-title":"Front Immunol"},{"key":"1347_CR24","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/1741-7007-7-23","volume":"7","author":"Z Zhang","year":"2009","unstructured":"Zhang Z, Xin D, Wang P, Zhou L, Hu L, Kong X, et al. Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay. BMC Biol. 2009;7:23. https:\/\/doi.org\/10.1186\/1741-7007-7-23.","journal-title":"BMC Biol"},{"issue":"1","key":"1347_CR25","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1007\/s10875-020-00758-x","volume":"40","author":"A Bousfiha","year":"2020","unstructured":"Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human Inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40(1):66\u201381. https:\/\/doi.org\/10.1007\/s10875-020-00758-x.","journal-title":"J Clin Immunol"},{"issue":"9","key":"1347_CR26","doi-asserted-by":"publisher","first-page":"e2538","DOI":"10.1093\/cid\/ciaa1049","volume":"73","author":"T Ishikawa","year":"2021","unstructured":"Ishikawa T, Okai M, Mochizuki E, Uchiyama T, Onodera M, Kawai T. Bacillus Calmette-Gu\u00e9rin (BCG) infections at high frequency in both AR-CGD and X-CGD patients following BCG vaccination. Clin Infect Dis. 2021;73(9):e2538\u201344. https:\/\/doi.org\/10.1093\/cid\/ciaa1049.","journal-title":"Clin Infect Dis"},{"key":"1347_CR27","doi-asserted-by":"publisher","unstructured":"Richardson SR, Doucet AJ, Kopera HC, Moldovan JB, Garcia-Perez JL, Moran JV. The influence of LINE-1 and SINE retrotransposons on mammalian genomes. Microbiol Spectr. 2015;3(2):MDNA3\u20130061\u20132014. https:\/\/doi.org\/10.1128\/microbiolspec.MDNA3-0061-2014","DOI":"10.1128\/microbiolspec.MDNA3-0061-2014"},{"key":"1347_CR28","doi-asserted-by":"publisher","unstructured":"Wimmer K, Callens T, Wernstedt A, Messiaen LJPg. The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion. 2011;7(11):e1002371. https:\/\/doi.org\/10.1371\/journal.pgen.1002371","DOI":"10.1371\/journal.pgen.1002371"},{"key":"1347_CR29","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/s13100-016-0065-9","volume":"7","author":"DC Hancks","year":"2016","unstructured":"Hancks DC, Kazazian HH Jr. Roles for retrotransposon insertions in human disease. Mob DNA. 2016;7:9. https:\/\/doi.org\/10.1186\/s13100-016-0065-9.","journal-title":"Mob DNA"},{"issue":"4","key":"1347_CR30","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1056\/NEJMra1510092","volume":"377","author":"HH Kazazian Jr","year":"2017","unstructured":"Kazazian HH Jr, Moran JV. Mobile DNA in health and disease. N Engl J Med. 2017;377(4):361\u201370. https:\/\/doi.org\/10.1056\/NEJMra1510092.","journal-title":"N Engl J Med"},{"issue":"7","key":"1347_CR31","doi-asserted-by":"publisher","first-page":"1159","DOI":"10.1016\/j.cell.2010.05.021","volume":"141","author":"CR Beck","year":"2010","unstructured":"Beck CR, Collier P, Macfarlane C, Malig M, Kidd JM, Eichler EE, et al. LINE-1 retrotransposition activity in human genomes. Cell. 2010;141(7):1159\u201370. https:\/\/doi.org\/10.1016\/j.cell.2010.05.021.","journal-title":"Cell"},{"issue":"2","key":"1347_CR32","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1006\/geno.1998.5510","volume":"53","author":"A Kumatori","year":"1998","unstructured":"Kumatori A, Faizunnessa N, Suzuki S, Moriuchi T, Kurozumi H, Nakamura M. Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease. Genomics. 1998;53(2):123\u20138. https:\/\/doi.org\/10.1006\/geno.1998.5510.","journal-title":"Genomics"},{"issue":"9","key":"1347_CR33","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1038\/sj.ejhg.5200523","volume":"8","author":"C Meischl","year":"2000","unstructured":"Meischl C, Boer M, Ahlin A, Roos D. A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease. Eur J Hum Genet. 2000;8(9):697\u2013703. https:\/\/doi.org\/10.1038\/sj.ejhg.5200523.","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"1347_CR34","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1086\/341722","volume":"71","author":"B Brouha","year":"2002","unstructured":"Brouha B, Meischl C, Ostertag E, de Boer M, Zhang Y, Neijens H, et al. Evidence consistent with human L1 retrotransposition in maternal meiosis I. Am J Hum Genet. 2002;71(2):327\u201336. https:\/\/doi.org\/10.1086\/341722.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"1347_CR35","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"},{"key":"1347_CR36","doi-asserted-by":"publisher","unstructured":"Gentsch M, Kaczmarczyk A, van Leeuwen K, de Boer M, Kaus-Drobek M, Dagher M, et al. Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). 2010;31(2):151\u20138. https:\/\/doi.org\/10.1002\/humu.21156","DOI":"10.1002\/humu.21156"},{"issue":"1","key":"1347_CR37","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":"7044","key":"1347_CR38","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1038\/nature03663","volume":"435","author":"AR Muotri","year":"2005","unstructured":"Muotri AR, Chu VT, Marchetto MC, Deng W, Moran JV, Gage FH. Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition. Nature. 2005;435(7044):903\u201310. https:\/\/doi.org\/10.1038\/nature03663.","journal-title":"Nature"},{"issue":"11","key":"1347_CR39","doi-asserted-by":"publisher","first-page":"1303","DOI":"10.1101\/gad.1803909","volume":"23","author":"H Kano","year":"2009","unstructured":"Kano H, Godoy I, Courtney C, Vetter M, Gerton G, Ostertag E, et al. L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism. Genes Dev. 2009;23(11):1303\u201312. https:\/\/doi.org\/10.1101\/gad.1803909.","journal-title":"Genes Dev"},{"issue":"8","key":"1347_CR40","doi-asserted-by":"publisher","first-page":"1395","DOI":"10.1101\/gr.219022.116","volume":"27","author":"S Richardson","year":"2017","unstructured":"Richardson S, Gerdes P, Gerhardt D, Sanchez-Luque F, Bodea G, Mu\u00f1oz-Lopez M, et al. Heritable L1 retrotransposition in the mouse primordial germline and early embryo. J Genome research. 2017;27(8):1395\u2013405. https:\/\/doi.org\/10.1101\/gr.219022.116.","journal-title":"J Genome research"},{"issue":"4","key":"1347_CR41","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 M. Genetic mosaicism as a cause of inborn errors of immunity. J Journal of clinical immunology. 2021;41(4):718\u201328. https:\/\/doi.org\/10.1007\/s10875-021-01037-z.","journal-title":"J Journal of clinical immunology"},{"issue":"1","key":"1347_CR42","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1016\/j.jaci.2018.09.009","volume":"143","author":"A Mensa-Vilar\u00f3","year":"2019","unstructured":"Mensa-Vilar\u00f3 A, Bravo Garc\u00eda-Morato M, de la Calle-Martin O, Franco-Jarava C, Mart\u00ednez-Saavedra M, Gonz\u00e1lez-Granado L, et al. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases. J The Journal of allergy clinical immunology. 2019;143(1):359\u201368. https:\/\/doi.org\/10.1016\/j.jaci.2018.09.009.","journal-title":"J The Journal of allergy clinical immunology"},{"issue":"6","key":"1347_CR43","doi-asserted-by":"publisher","first-page":"1780","DOI":"10.1016\/j.jaci.2015.12.1310","volume":"137","author":"H Al-Mousa","year":"2016","unstructured":"Al-Mousa H, Abouelhoda M, Monies DM, Al-Tassan N, Al-Ghonaium A, Al-Saud B, et al. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. J Allergy Clin Immunol. 2016;137(6):1780\u20137. https:\/\/doi.org\/10.1016\/j.jaci.2015.12.1310.","journal-title":"J Allergy Clin Immunol"},{"key":"1347_CR44","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24394","author":"M Postel","year":"2022","unstructured":"Postel M, Culver J, Ricker C, Craig D. Transcriptome analysis provides critical answers to the \u201cvariants of uncertain significance\u201d conundrum. Hum Mutat. 2022. https:\/\/doi.org\/10.1002\/humu.24394.","journal-title":"Hum Mutat"}],"updated-by":[{"DOI":"10.1007\/s10875-023-01435-5","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2023,1,20]],"date-time":"2023-01-20T00:00:00Z","timestamp":1674172800000}}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-022-01347-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-022-01347-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-022-01347-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,21]],"date-time":"2023-01-21T07:11:18Z","timestamp":1674285078000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-022-01347-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,23]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["1347"],"URL":"https:\/\/doi.org\/10.1007\/s10875-022-01347-w","relation":{"correction":[{"id-type":"doi","id":"10.1007\/s10875-023-01435-5","asserted-by":"object"}]},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,23]]},"assertion":[{"value":"27 May 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 August 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2023","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1007\/s10875-023-01435-5","URL":"https:\/\/doi.org\/10.1007\/s10875-023-01435-5","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was performed following the Declaration of Helsinki and approved by the ethics committee of Children\u2019s Hospital of Chongqing Medical University (Chongqing, China). Written informed consent for participation in this study was obtained from patient\u2019s parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Written informed consent was obtained from patient\u2019s parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Written informed consent for publication of the study was obtained from 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"}}]}}