{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T08:10:11Z","timestamp":1745827811227,"version":"3.40.4"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T00:00:00Z","timestamp":1745798400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T00:00:00Z","timestamp":1745798400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"DOI":"10.1186\/s13256-025-05237-8","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T07:36:20Z","timestamp":1745825780000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report"],"prefix":"10.1186","volume":"19","author":[{"given":"Yalin","family":"Sun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu","family":"Teng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huaping","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenghong","family":"Qi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,4,28]]},"reference":[{"key":"5237_CR1","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1007\/s00431-019-03512-7","volume":"179","author":"T Xu","year":"2020","unstructured":"Xu T, Zhao Q, Li W, Chen X, Xue X, Chen Z, et al. X\u2043linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic. Eur J Pediatr. 2020;179:327\u201338.","journal-title":"Eur J Pediatr"},{"key":"5237_CR2","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1097\/PG9.0000000000000102","volume":"2","author":"SA Zacharias","year":"2021","unstructured":"Zacharias SA, Seshadri P, Hwang S, Baker L, Powell J, Fernando Del Rosario J, et al. Delayed diagnosis of X-linked lymphoproliferative syndrome type 2 in a 17-year-old male with severe Crohn\u2019s disease and recurrent skin infections. JPGN ReP. 2021;2:102.","journal-title":"JPGN ReP"},{"key":"5237_CR3","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1038\/cdd.2009.81","volume":"17","author":"S Galb\u00e1n","year":"2010","unstructured":"Galb\u00e1n S, Duckett CS. XIAP as a ubiquitin ligase in cellular signaling. Cell Death Differ. 2010;17:54\u201360.","journal-title":"Cell Death Differ"},{"key":"5237_CR4","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1038\/nature05257","volume":"444","author":"S Rigaud","year":"2006","unstructured":"Rigaud S, Fondan\u00e8che MC, Lambert N, Pasquier B, Mateo V, Soulas P, et al. XIAP deficiency in humans causes an X\u2043linked lymphoproliferative syndrome. Nature. 2006;444:110\u20134.","journal-title":"Nature"},{"key":"5237_CR5","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.semcdb.2015.01.015","volume":"39","author":"S Latour","year":"2015","unstructured":"Latour S, Aguilar C. XIAP deficiency syndrome in humans. Semin Cell Dev Biol. 2015;39:115\u201323.","journal-title":"Semin Cell Dev Biol"},{"issue":"8","key":"5237_CR6","doi-asserted-by":"publisher","first-page":"1278","DOI":"10.1002\/emmm.201303090","volume":"5","author":"RB Damgaard","year":"2013","unstructured":"Damgaard RB, Fiil BK, Speckmann C, Yabal M, Zur Stadt U, Bekker-Jensen S, et al. Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling. EMBO Mol Med. 2013;5(8):1278\u201395.","journal-title":"EMBO Mol Med"},{"key":"5237_CR7","volume-title":"Industry norms and guidelines for prenatal diagnosis of common birth defect","author":"L He","year":"2013","unstructured":"He L, Wu L, He G. Industry norms and guidelines for prenatal diagnosis of common birth defect. Bei Jing: People\u2019s Medical Publishing House; 2013."},{"key":"5237_CR8","first-page":"1097","volume":"38","author":"P Zhang","year":"2021","unstructured":"Zhang P, Gao Z, Jia J, Chen Q. Sibling with SCN2A mutation due to germline mosaicism has ASD\/DD. Chin J Med Genet. 2021;38:1097\u2013100.","journal-title":"Chin J Med Genet"},{"key":"5237_CR9","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1007\/s40620-018-0518-y","volume":"32","author":"T Okamoto","year":"2019","unstructured":"Okamoto T, Nozu K, Lijima K, Ariga T. Germline mosaicism is a pitfall in the diagnosis of \u201csporadic\u201d X-linked Alport syndrome. J Nephrol. 2019;32:155\u20139.","journal-title":"J Nephrol"},{"key":"5237_CR10","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1186\/s12916-023-02846-2","volume":"21","author":"Y Wen","year":"2023","unstructured":"Wen Y, Wang J, Zhang Q, Yang X, Wei L, Bao X. MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in mal. BMC Med. 2023;21:155.","journal-title":"BMC Med"},{"key":"5237_CR11","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1038\/s41431-018-0291-3","volume":"27","author":"E Shvetsova","year":"2019","unstructured":"Shvetsova E, Sofronova A, Monajemi R, Gagalova K, Draisma HHM, White SJ, et al. Skewed X-inactivation is common in the general female population. Eur J Hum Genet. 2019;27:455\u201365.","journal-title":"Eur J Hum Genet"},{"key":"5237_CR12","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1016\/j.nmd.2018.04.005","volume":"28","author":"M Ishizaki","year":"2018","unstructured":"Ishizaki M, Kobayashi M, Adachi K, Matsumura T, Kimura E. Female dystrophinopathy: review of current literature. Neuromuscul Disord. 2018;28:572\u201381.","journal-title":"Neuromuscul Disord"},{"key":"5237_CR13","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1007\/s10875-015-0144-6","volume":"35","author":"X Yang","year":"2015","unstructured":"Yang X, Hoshino A, Taga T, Kunitsu T, Ikeda Y, Yasumi T, et al. A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele. J Clin Immunol. 2015;35:244\u20138.","journal-title":"J Clin Immunol"},{"key":"5237_CR14","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1007\/s10875-015-0166-0","volume":"35","author":"M Dziadzio","year":"2015","unstructured":"Dziadzio M, Ammann S, Canning C, Boyle F, Hassan A, Cale C, et al. Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. J Clin Immunol. 2015;35:439\u201344.","journal-title":"J Clin Immunol"},{"key":"5237_CR15","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1111\/j.1365-3083.2008.02128.x","volume":"68","author":"ST Woon","year":"2008","unstructured":"Woon ST, Ameratunga R, Croxson M, Taylor G, Neas K, Edkins E, et al. Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female. Scand J Immunol. 2008;68:153\u20138.","journal-title":"Scand J Immunol"},{"key":"5237_CR16","doi-asserted-by":"publisher","first-page":"691524","DOI":"10.3389\/fped.2021.691524","volume":"9","author":"X Hou","year":"2021","unstructured":"Hou X, Sun J, Liu C, Hao J. Case report: Wiskott-Aldrich syndrome caused by extremely skewed x-chromosome inactivation in a Chinese girl. Front Pediatr. 2021;9:691524.","journal-title":"Front Pediatr"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-025-05237-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-025-05237-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-025-05237-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T07:36:21Z","timestamp":1745825781000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-025-05237-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,28]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["5237"],"URL":"https:\/\/doi.org\/10.1186\/s13256-025-05237-8","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,28]]},"assertion":[{"value":"16 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 April 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 Ethics Committee of our hospital (approval no. 2021-ER-CT-55), with consent to participate.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardian for publication of this case report and any accompanying images.\u00a0A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"193"}}