Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

ABSTRACT:

Background

Kabuki syndrome (KS) is a complex multisystem developmental disorder associated with mutation of genes encoding histone-modifying proteins. In addition to craniofacial, intellectual, and cardiac defects, KS is also characterized by humoral immune deficiency and autoimmune disease, yet no detailed molecular characterization of the KS-associated immune phenotype has been reported.

Objective

We sought to characterize the humoral immune defects found in patients with KS with lysine methyltransferase 2D (KMT2D) mutations.

Methods

We comprehensively characterized B-cell function in a cohort (n = 13) of patients with KS (age, 4 months to 27 years).

Results

Three quarters (77%) of the cohort had a detectable heterozygous KMT2D mutation (50% nonsense, 20% spl

SUBMITTER: Lindsley AW 

PROVIDER: S-EPMC4715656 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature