Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.

Autor:	Zhang J; Department of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH; Department of Rheumatology and Clinical Immunology, PUMCH; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China., Kang Y; Department of Plastic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China., Xia Z; Department of Plastic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China., Chong Y; Department of Plastic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China., Long X; Department of Plastic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China., Shen M; Department of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH; Department of Rheumatology and Clinical Immunology, PUMCH; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Jazyk:	angličtina
Zdroj:	Frontiers in immunology [Front Immunol] 2024 Jul 30; Vol. 15, pp. 1412084. Date of Electronic Publication: 2024 Jul 30 (Print Publication: 2024).
DOI:	10.3389/fimmu.2024.1412084
Abstrakt:	Macrophage activation syndrome (MAS), is a severe and fatal complication of various pediatric inflammatory disorders. Kabuki syndrome (KS), mainly caused by lysine methyltransferase 2D ( KMT2D ; 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 KMT2D 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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2024 Zhang, Kang, Xia, Chong, Long and Shen.)
Databáze:	MEDLINE
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