{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T19:20:50Z","timestamp":1757618450024,"version":"3.44.0"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Appl Genetics"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1007\/s13353-025-00986-0","type":"journal-article","created":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T01:18:59Z","timestamp":1751332739000},"page":"653-656","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Masquerading as lymphoma: the accelerated phase of Chediak\u2013Higashi syndrome and its novel mutation"],"prefix":"10.1007","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-3604-4929","authenticated-orcid":false,"given":"Priyanka","family":"Aggarwal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aditi","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonali","family":"Aggarwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepa","family":"Rani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vineeta","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,7,1]]},"reference":[{"issue":"3","key":"986_CR1","first-page":"620","volume":"59","author":"K Fukai","year":"1996","unstructured":"Fukai K, Oh J, Karim MA et al (1996) Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet 59(3):620\u2013624","journal-title":"Am J Hum Genet"},{"issue":"1","key":"986_CR2","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1007\/s12288-017-0805-0","volume":"34","author":"N Ganesan","year":"2018","unstructured":"Ganesan N, Kumar PN (2018) Chediak-Higashi syndrome in accelerated phase. Indian J Hematol Blood Transfus 34(1):146\u2013147","journal-title":"Indian J Hematol Blood Transfus"},{"issue":"4","key":"986_CR3","doi-asserted-by":"publisher","first-page":"378","DOI":"10.32677\/IJCR.2019.v05.i04.028","volume":"5","author":"P Goel","year":"2019","unstructured":"Goel P, Acharya S, Kaushik S, Bahl N, Malviya A (2019) Chediak-Higashi syndrome: a case report of rare anomaly. Indian J Case Rep 5(4):378\u2013379","journal-title":"Indian J Case Rep"},{"key":"986_CR4","doi-asserted-by":"crossref","unstructured":"Greene S,\u00a0Soldatos\u00a0A, Toro C,\u00a0Zein\u00a0WM, SnowJ,\u00a0Lehky\u00a0TJ,\u00a0Malicdan\u00a0MC,\u00a0Introne\u00a0WJ (2024) Ched\u00edak-Higashi syndrome: hair-to-toe spectrum.\u00a0Semin\u00a0Pediatr\u00a0Neurol 8:101168","DOI":"10.1016\/j.spen.2024.101168"},{"key":"986_CR5","doi-asserted-by":"crossref","unstructured":"Karande S, Agarwal S, Gandhi B, Muranjan M (2014) Chediak-Higashi syndrome in accelerated phase masquerading as severe acute malnutrition. BMJ Case Rep 2014:bcr2014203763.\u00a0","DOI":"10.1136\/bcr-2014-203763"},{"issue":"12","key":"986_CR6","doi-asserted-by":"publisher","first-page":"2775","DOI":"10.1007\/s00277-022-04980-y","volume":"101","author":"A Khanal","year":"2022","unstructured":"Khanal A, Hajra S, Verma PK et al (2022) Chediak Higashi syndrome with pancytopenia: a rare presentation of a rare disease and the role of hair shaft microscopy in the diagnosis. Ann Hematol 101(12):2775\u20132776","journal-title":"Ann Hematol"},{"issue":"2","key":"986_CR7","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1007\/s12288-011-0130-y","volume":"29","author":"SC Patne","year":"2013","unstructured":"Patne SC, Kumar S, Bagri NK, Kumar A, Shukla J (2013) Ch\u00e9diak-higashi syndrome: a case report. Indian J Hematol Blood Transfus 29(2):80\u201383","journal-title":"Indian J Hematol Blood Transfus"},{"issue":"2","key":"986_CR8","doi-asserted-by":"publisher","first-page":"255","DOI":"10.4103\/0377-4929.48937","volume":"52","author":"S Rao","year":"2009","unstructured":"Rao S, Kar R, Saxena R (2009) Pseudo Chediak-Higashi anomaly in acute myelomonocytic leukemia. Indian J Pathol Microbiol 52(2):255\u2013256","journal-title":"Indian J Pathol Microbiol"},{"issue":"5","key":"986_CR9","doi-asserted-by":"publisher","first-page":"524","DOI":"10.4103\/0019-5154.159662","volume":"60","author":"P Rudramurthy","year":"2015","unstructured":"Rudramurthy P, Lokanatha H (2015) Chediak-Higashi syndrome: a case series from Karnataka, India. Indian J Dermatol 60(5):524","journal-title":"Indian J Dermatol"},{"key":"986_CR10","doi-asserted-by":"crossref","unstructured":"Sharma P, Nicoli ER, Serra-Vinardell J, Morimoto M, Toro C, Malicdan MCV, Introne WJ (2020) Chediak-Higashi syndrome: a review of the past, present, and future. Drug Discov Today Dis Models Summer 31:31\u201336","DOI":"10.1016\/j.ddmod.2019.10.008"},{"issue":"3","key":"986_CR11","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1111\/ijd.13019","volume":"55","author":"A Singh","year":"2016","unstructured":"Singh A, Bryan MM, Roney JC et al (2016) A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent. Int J Dermatol 55(3):317\u2013321","journal-title":"Int J Dermatol"},{"issue":"Suppl 1","key":"986_CR12","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/s12288-013-0325-5","volume":"30","author":"S Sood","year":"2014","unstructured":"Sood S, Biswas B, Kaushal V, Mandal T (2014) Chediak-higashi syndrome in accelerated phase: a rare case report with review of literature. Indian J Hematol Blood Transfus 30(Suppl 1):195\u2013198","journal-title":"Indian J Hematol Blood Transfus"},{"issue":"1","key":"986_CR13","first-page":"30","volume":"6","author":"R Sriram","year":"2020","unstructured":"Sriram R, Gowda HH, Okade R, Shale M, Varma K (2020) Chediak-Higashi syndrome \u2013 a rare case report. J Med Sci Health 6(1):30\u201332","journal-title":"J Med Sci Health"},{"issue":"1","key":"986_CR14","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1186\/s13045-024-01621-x","volume":"17","author":"Y Wu","year":"2024","unstructured":"Wu Y, Sun X, Kang K, Yang Y, Li H, Zhao A, Niu T (2024) Hemophagocytic lymphohistiocytosis: current treatment advances, emerging targeted therapy and underlying mechanisms. J Hematol Oncol 17(1):106","journal-title":"J Hematol Oncol"}],"container-title":["Journal of Applied Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-025-00986-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13353-025-00986-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-025-00986-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,7]],"date-time":"2025-09-07T00:15:57Z","timestamp":1757204157000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13353-025-00986-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,1]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["986"],"URL":"https:\/\/doi.org\/10.1007\/s13353-025-00986-0","relation":{},"ISSN":["1234-1983","2190-3883"],"issn-type":[{"type":"print","value":"1234-1983"},{"type":"electronic","value":"2190-3883"}],"subject":[],"published":{"date-parts":[[2025,7,1]]},"assertion":[{"value":"24 February 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 June 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 June 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 July 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Taken from the mother of the child.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Taken.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Written informed consent was obtained from the mother.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The authors declare no competing interests.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}