AUTHOR=Zhang Jingyuan , Kang Yuanbo , Xia Zenan , Chong Yuming , Long Xiao , Shen Min 

TITLE=Case report: Macrophage activation syndrome in a patient with Kabuki syndrome

JOURNAL=Frontiers in Immunology

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2024.1412084

DOI=10.3389/fimmu.2024.1412084

ISSN=1664-3224

ABSTRACT=<p>Macrophage activation syndrome (MAS), is a severe and fatal complication of various pediatric inflammatory disorders. Kabuki syndrome (KS), mainly caused by lysine methyltransferase 2D (<italic>KMT2D</italic>; OMIM 602113) variants, is a rare congenital disorder with multi-organ deficiencies. To date, there have been no reported cases of MAS in patients with KS. This report describes a case of a 22-year-old male with Kabuki syndrome (KS) who developed MAS. This unique case not only deepens the understanding of the involvement of <italic>KMT2D</italic> in immune regulation and disease, but expands the phenotype of the adult patient to better understand the natural history, disease burden, and management of patients with KS complicated with autoimmune disorders.</p>