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

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.

Source: Journal of Allergy and Clinical Immunology - July 17, 2015 Category: Allergy & Immunology Authors: Andrew W. Lindsley, Howard M. Saal, Thomas A. Burrow, Robert J. Hopkin, Oleg Shchelochkov, Pooja Khandelwal, Changchun Xie, Jack Bleesing, Lisa Filipovich, Kimberly Risma, Amal H. Assa'ad, Phillip A. Roehrs, Jonathan A. Bernstein Source Type: research