Kabuki syndrome is a multisystem developmental disorder. Andrew W. Lindsley, MD, PhD
recently characterized the humoral immune defects found in patients with Kabuki syndrome with mutations in a protein that modifies histones, lysine methyltransferase 2D (KMT2D). Autosomal dominant KMT2D mutations were associated with dysregulation of terminal B-cell differentiation, leading to humoral immune deficiency and, in some cases, autoimmunity. These data suggest that patients with KS should undergo serial clinical immune evaluations.