{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T05:44:11Z","timestamp":1757310251528,"version":"3.40.5"},"reference-count":40,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,3]],"date-time":"2024-03-03T00:00:00Z","timestamp":1709424000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004690","name":"Minist\u00e8re de la Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004690","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by <jats:italic>KMT2D<\/jats:italic> and <jats:italic>KDM6A<\/jats:italic> variants, dominated by intellectual disability and characteristic facial features. Recurrently, pathogenic variants are identified in those genes in patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to describe the genetic diagnosis and the clinical management of patients with paediatric\u2010onset AIC and KS. Among 11 patients with AIC and KS, all had chronic immune thrombocytopenic purpura, and seven had Evans syndrome. All had other associated immunopathological manifestations, mainly symptomatic hypogammaglobinaemia. They had a median of 8 (5\u201310) KS\u2010associated manifestations. Pathogenic variants were detected in <jats:italic>KMT2D<\/jats:italic> gene without clustering, during the immunological work\u2010up of AIC in three cases, and the clinical strategy to validate them is emphasized. Eight patients received second\u2010line treatments, mainly rituximab and mycophenolate mofetil. With a median follow\u2010up of 17 (2\u201331) years, 8\/10 alive patients still needed treatment for AIC. First\u2010line paediatricians should be able to recognize and confirm KS in children with ITP or multiple AIC, to provide early appropriate clinical management and specific long\u2010term follow\u2010up. The epigenetic immune dysregulation in KS opens exciting new perspectives.<\/jats:p>","DOI":"10.1111\/bjh.19387","type":"journal-article","created":{"date-parts":[[2024,3,3]],"date-time":"2024-03-03T22:54:15Z","timestamp":1709506455000},"page":"1899-1907","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients"],"prefix":"10.1111","volume":"204","author":[{"given":"Chlo\u00e9","family":"Bianchi","sequence":"first","affiliation":[{"name":"Pediatric Haemato\u2010Immunology, CIC1401, INSERM CICP, National Reference Center for Autoimmune Cytopenias in Children (CEREVANCE) Bordeaux University Hospital  Bordeaux France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henri","family":"Margot","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics MRGM INSERM U1211, Bordeaux University Hospital, University of 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