ArticleItalian journal of pediatrics2014
Autoimmune haematological disorders in two Italian children with Kabuki syndrome.
Article in Italian journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 32 citations in OpenAlex.
- Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.Frontiers in immunology · 2021Trial
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- Immunoglobulin A Nephropathy in a Kidney Transplant Recipient with Kabuki Syndrome.Internal medicine (Tokyo, Japan) · 2025Article
- Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registry.Orphanet journal of rare diseases · 2025Article
- Article
- Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia.Frontiers in pediatrics · 2023Article
- Linezolid vs Vancomycin in Induced Thrombocytopenia.Infectious diseases and therapy · 2022Article
- "CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).Frontiers in pediatrics · 2022Article
- Mechanism and Molecular Targets of Ejiao Siwu Decoction for Treating Primary Immune Thrombocytopenia Based on High-Performance Liquid Chromatograph, Network Pharmacology, Molecular Docking and Cytokines Validation.Frontiers in medicine · 2022Article
- Review
- Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.World journal of pediatrics : WJP · 2019Review
- A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.Journal of human genetics · 2019Article
- Refractory ITP in a patient with Kabuki syndrome: response to low-dose rituximab.International journal of hematology · 2017Article
- Epigenetic control of the immune system: a lesson from Kabuki syndrome.Immunologic research · 2016Review
- Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.Journal of clinical research in pediatric endocrinology · 2016Article
- Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.The Journal of allergy and clinical immunology · 2016Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kabuki syndrome (also called Niikawa-Kuroki syndrome) is a rare genetic disease described for the first time in Japan, characterised by anomalies in multiple organ systems and often associated with autoimmune disorders and impaired immune response. We herein report the clinical history, the therapeutic approach and the outcome of two children with Kabuki syndrome who developed autoimmune haematological disorders (haemolytic anaemia and immune thrombocytopenia). Factors regarding differential diagnosis and interventions in better management of this syndrome and its complications are discussed. This is the first report of Italian children with autoimmune haematological disorders complicating Kabuki syndrome.
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