{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:32:10Z","timestamp":1747193530621,"version":"3.40.5"},"reference-count":23,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2021,9,3]],"date-time":"2021-09-03T00:00:00Z","timestamp":1630627200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,9,3]],"date-time":"2021-09-03T00:00:00Z","timestamp":1630627200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2022]]},"abstract":"<jats:p>Kabuki syndrome (KS) is a rare congenital disorder commonly complicated by humoral immunodeficiency. Patients with KS present with mutation in the histone-lysine N-methyltransferase 2D (&lt;i&gt;KMT2D&lt;\/i&gt;) gene. Although various &lt;i&gt;KMT2D&lt;\/i&gt; mutations are often identified in lymphoma and leukemia, those encountered in aplastic anemia (AA) are limited. Herein, we present the case of a 45-year-old Japanese man who developed severe pancytopenia and hypogammaglobulinemia. He did not present with any evident malformations, intellectual disability, or detectable levels of autoantibodies. However, B-cell development was impaired. Therefore, a diagnosis of very severe AA due to a hypoplastic marrow, which did not respond to granulocyte colony-stimulating factor, was made. The patient received umbilical cord blood transplantation but died from a &lt;i&gt;Pseudomonas&lt;\/i&gt; infection before neutrophil engraftment. Trio whole-exome sequencing revealed a novel missense heterozygous mutation c.15959G &amp;#x3e;A (p.R5320H) in exon 50 of the &lt;i&gt;KMT2D&lt;\/i&gt; gene. Moreover, Sanger sequencing of peripheral blood and bone marrow mononuclear cells and a skin biopsy specimen obtained from this patient identified this heterozygous mutation, suggesting that de novo mutation associated with KS occurred in the early embryonic development. Our case showed a novel association between KS mutation and adult-onset AA. <\/jats:p>","DOI":"10.1159\/000518227","type":"journal-article","created":{"date-parts":[[2021,9,3]],"date-time":"2021-09-03T21:05:12Z","timestamp":1630703112000},"page":"89-96","source":"Crossref","is-referenced-by-count":2,"title":["A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia"],"prefix":"10.1159","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1150-0970","authenticated-orcid":false,"given":"Shinobu","family":"Tamura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Kosako","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiaki","family":"Furuya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Yamashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiki","family":"Mushino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Mishima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Kinoshita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akinori","family":"Nishikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ko-Ichiro","family":"Yoshiura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Sonoki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,9,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.06.056"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2019.05.024"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3943"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3940"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2020001696"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310312"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30332"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s12026-015-8707-4"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.06.002"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12051"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-08-295832"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2018.09.039"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2015.07.004"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2018.05.016"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3940"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15443"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2018.190884"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1080\/16078454.2020.1757332"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1414799"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1158\/1541-7786.MCR-12-0695"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2017.05.002"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.13853"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.22214.1"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/518227","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/518227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:12:43Z","timestamp":1745421163000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000518227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,3]]},"references-count":23,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,1,21]]},"published-print":{"date-parts":[[2022,2,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000518227","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"type":"print","value":"0001-5792"},{"type":"electronic","value":"1421-9662"}],"subject":[],"published":{"date-parts":[[2021,9,3]]}}}