Article
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
The Journal of allergy and clinical immunology - 1 Jan 2016
Lindsley Andrew W, Saal Howard M, Burrow Thomas A, Hopkin Robert J, Shchelochkov Oleg, Khandelwal Pooja, Xie Changchun, Bleesing Jack, Filipovich Lisa, Risma Kimberly, Assa'ad Amal H, Roehrs Phillip A, Bernstein Jonathan A
Abstract excerpt
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...
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