ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05937828 ("French National Cohort of Patients With Pediatric-onset of Autoimmune Cytopenia), which is not on this map. Cited by 29 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
"French National Cohort of Patients With Pediatric-onset of Autoimmune Cytopenia (OBS'CEREVANCE Cohort)"
Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review.Frontiers in pediatrics · 2021Pooled it
- Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.Neurogenetics · 2026Review
- When Rarity Hits Twice: Hemophagocytic Lymphohistiocytosis in Kabuki Syndrome-A Case Report From Palestine.Clinical case reports · 2026Article
- Mutations in histone lysine methyltransferase genes are associated with autoimmune cytopenias: a single-center study.Blood vessels, thrombosis & hemostasis · 2026Article
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- X-linked transcriptome dysregulation across immune cells in systemic lupus erythematosus.Biology of sex differences · 2025Article
- Immunoglobulin A Nephropathy in a Kidney Transplant Recipient with Kabuki Syndrome.Internal medicine (Tokyo, Japan) · 2025Article
- KMT2D coordinates antiviral CD4Cell reports · 2025Article
- Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registry.Orphanet journal of rare diseases · 2025Article
- Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China.European journal of pediatrics · 2025Article
- Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome.Briefings in bioinformatics · 2024Article
- Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.Molecular genetics & genomic medicine · 2024Review
- Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Human genetics · 2024Article
- Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.Journal of pediatric genetics · 2024Article
- Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.Frontiers in immunology · 2024Article
- KMT2D regulates activation, localization, and integrin expression by T-cells.Frontiers in immunology · 2024Article
- Article
- Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia.Frontiers in pediatrics · 2023Article
- Article
- Short Stature Syndromes: Case Series from India.Journal of pediatric genetics · 2022Article
Corrections and comments
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Authors and funding
61 authors at 20 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeKabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality. To assess the frequency and severity of the manifestations, we measured the prevalence of immunopathological manifestations as well as genotype-phenotype correlations in KS individuals from a registry.
methodsData were for 177 KS individuals with KDM6A or KMT2D pathogenic variants. Questionnaires to clinicians were used to assess the presence of immunodeficiency and autoimmune diseases both on a clinical and biological basis.
resultsOverall, 44.1% (78/177) and 58.2% (46/79) of KS individuals exhibited infection susceptibility and hypogammaglobulinemia, respectively; 13.6% (24/177) had autoimmune disease (AID; 25.6% [11/43] in adults), 5.6% (10/177) with ≥2 AID manifestations. The most frequent AID manifestations were immune thrombocytopenic purpura (7.3% [13/177]) and autoimmune hemolytic anemia (4.0% [7/177]). Among nonhematological manifestations, vitiligo was frequent. Immune thrombocytopenic purpura was frequent with missense versus other types of variants (p = 0.027).
conclusionThe high prevalence of immunopathological manifestations in KS demonstrates the importance of systematic screening and efficient preventive management of these treatable and sometimes life-threatening conditions.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.