
Immune deficiencies, infection, and systemic immune disordersDefects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome
Keywords: Kabuki syndrome; KMT2D; KDM6A; hypogammaglobulinemia; memory B cells; CD21lo B cells; class-switch recombination; somatic hypermutation; PTIP; AICDA; AID; polymerase eta; AICDA; Activation-induced cytidine deaminase; cKS; Clinical Kabuki syndrome (no iden