M256 unmasking kabuki syndrome: a 7-year-old girl with recurrent otitis media, hypogammaglobulinemia and autoimmune cytopenias

Kabuki syndrome (KS) is a rare disorder characterized by distinct facial features, growth deficiency, intellectual disability, skeletal and visceral abnormalities and immune dysregulation. It is caused by pathogenic variants in two known genes, KMT2D (histone-lysine N-methyltransferase 2D) and KDM6A (lysine-specific demethylase 6A).

Source: Annals of Allergy, Asthma and Immunology - November 1, 2020 Category: Allergy & Immunology Authors: T. Ahn, M. Garcia-Lloret Source Type: research