Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients
Chloé Bianchi,
Henri Margot,
Helder Fernandes
et al.
Abstract:SummaryKabuki 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 genetic diagnosis and the clinical management of patients with paediatric‐onset AIC and KS. Am… Show more
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