Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

doi:10.1111/bjh.19387

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

British journal of haematology - 1 May 2024

Bianchi Chloé, Margot Henri, Fernandes Helder, Pasquet Marlène, Priqueler Laurence, Roy-Peaud Frédérique, Bauduer Frédéric, Bayart Sophie, Garnier Nathalie, Fain Olivier, Van Gils Julien, Joly Sandrine Baron, Rialland Fanny, Paillard Catherine, Deparis Marianna, Lambilliotte Anne, Leblanc Thierry, Fahd Mony, Leverger Guy, Héritier Sébastien, Geneviève David, Rieux-Laucat Frédéric, Picard Capucine, Neyraud Caroline, Aladjidi Nathalie

Abstract excerpt

Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A 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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia, Hemolytic, Autoimmune

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Face

Share to Hematologic Diseases

Share to Histone Demethylases

Share to Purpura, Thrombocytopenic, Idiopathic

Share to Rituximab

Share to Thrombocytopenia

Share to Vestibular Diseases

Source

Open in PubMed

Identifiers

PMID: 38432067
DOI: 10.1111/bjh.19387

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.PMID 38432067Read ↗

Epigenetic control of the immune system: a lesson from Kabuki syndrome.Semantic proximity Read ↗

Pathogenesis of Autoimmune Cytopenias in Inborn Errors of Immunity Revealing Novel Therapeutic TargetsSemantic proximity Read ↗

Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.Semantic proximity Read ↗

Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.Semantic proximity Read ↗

Autoimmune cytopenias in inborn errors of immunity: associations with monogenic mutations and immunologic parameters.Semantic proximity Read ↗

Abnormal Immune Profile in Individuals with Kabuki Syndrome.Semantic proximity Read ↗

A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia.Semantic proximity Read ↗

Genetic Variants Associated with Inborn Errors of Immunity in Pediatric Immune ThrombocytopeniaSemantic proximity Read ↗

Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.Semantic proximity Read ↗

[Kabuki syndrome: Update and review].Semantic proximity Read ↗

Immunophenotype identifies children with immune cytopenias at risk of inborn errors of immunity-related mutationsSemantic proximity Read ↗

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.