Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)

In conclusion, immunological manifestations of KS in our cohort include susceptibility to infections, antibody deficiency, and autoimmunity. Autoimmune cytopenia is correlated with thymectomy and elevated CD3  + TCRαβ + CD4-CD8-T-cells, and benefits from treatment with mycophenolate.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research