{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T12:13:13Z","timestamp":1778328793130,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,10,14]],"date-time":"2014-10-14T00:00:00Z","timestamp":1413244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:p>Kabuki or Niikawa\u2013Kuroki syndrome (<jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>) is a rare disorder with multiple malformations and recurrent infections, especially otitis media. This study aimed to investigate the genetic defects in Kabuki syndrome and determine if immune status is related to recurrent otitis media. Fourteen patients from 12 unrelated families were enrolled in the 9\u2010year study period (2005\u20132013). All had Kabuki faces, cleft palate, developmental delay, mental retardation, and the short fifth finger. Recurrent otitis media (12\/14) and hearing impairment (8\/14) were also more common features. Immunologic analysis revealed lower memory <jats:styled-content style=\"fixed-case\">CD19<\/jats:styled-content>+ cells (11\/13), lower memory <jats:styled-content style=\"fixed-case\">CD4<\/jats:styled-content>+ cells (8\/13), undetectable anti\u2010<jats:styled-content style=\"fixed-case\">HBs<\/jats:styled-content> antibodies (7\/13), and antibody deficiency (7\/13), including lower <jats:styled-content style=\"fixed-case\">IgA<\/jats:styled-content> (4), <jats:styled-content style=\"fixed-case\">IgG<\/jats:styled-content> (2), and <jats:styled-content style=\"fixed-case\">IgG2<\/jats:styled-content> (1). Na\u00efve emigrant lymphocytes, lymphocyte proliferation function, complement activity, and superoxide production in polymorphonuclear cells were all normal. All the patients had <jats:styled-content style=\"fixed-case\">KMT2D<\/jats:styled-content> mutations and 10 novel mutations of R1252X, R1757X,Y1998C, P2550R fs2604X, Q4013X, G5379X, E5425K, R5432X,  R5432W, and R5500W. Resembling the phenotype of common variable immunodeficiency, <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content> patients with antibody deficiency, decreased memory cells, and poor vaccine response increased susceptibility to recurrent otitis media. Large\u2010scale prospective studies are warranted to determine if regular immunoglobulin supplementation decreases the frequency of otitis media and severity of hearing impairment.<\/jats:p>","DOI":"10.1111\/cge.12484","type":"journal-article","created":{"date-parts":[[2014,8,21]],"date-time":"2014-08-21T10:46:02Z","timestamp":1408617962000},"page":"255-260","source":"Crossref","is-referenced-by-count":46,"title":["Immunologic assessment and <scp>KMT2D<\/scp> mutation detection in Kabuki syndrome"],"prefix":"10.1111","volume":"88","author":[{"given":"J.\u2010L.","family":"Lin","sequence":"first","affiliation":[{"name":"Division of Genetics and Endocrinology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.\u2010I.","family":"Lee","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Care and Research (PICAR) Institute"},{"name":"Division of Allergy, Asthma and Rheumatology Department of Pediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.\u2010L.","family":"Huang","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Care and Research (PICAR) Institute"},{"name":"Division of Allergy, Asthma and Rheumatology Department of Pediatrics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. K.\u2010T.","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Plasty Department of Surgery"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.\u2010C.","family":"Chan","sequence":"additional","affiliation":[{"name":"Division of Ear, Nose and Throat, Department of Surgery Chang Gung University College of Medicine and Chang Gung Children's and Memorial Hospital  Taoyuan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.\u2010J.","family":"Lo","sequence":"additional","affiliation":[{"name":"Division of Plasty Department of Surgery"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.\u2010J.","family":"You","sequence":"additional","affiliation":[{"name":"Division of Genetics and Endocrinology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.\u2010F.","family":"Shih","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Care and Research (PICAR) Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.\u2010Y.","family":"Tseng","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Care and Research (PICAR) Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.\u2010C.","family":"Wu","sequence":"additional","affiliation":[{"name":"Division of Genetics and Endocrinology"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,10,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.220"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34074"},{"key":"e_1_2_6_4_1","first-page":"278","article-title":"Immune abnormalities are a frequent manifestation of Kabuki syndrome","volume":"135","author":"Makrythanasis P","year":"2005","journal-title":"Am J Med Genet A"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-38"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12050"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30722"},{"key":"e_1_2_6_9_1","unstructured":"Jeffery Modell Foundation. 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