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.
Department of Plastic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Front Immunol. 2024 Jul 30;15:1412084. doi: 10.3389/fimmu.2024.1412084. eCollection 2024.
Macrophage activation syndrome (MAS), is a severe and fatal complication of various pediatric inflammatory disorders. Kabuki syndrome (KS), mainly caused by lysine methyltransferase 2D (; 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 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.
巨噬细胞活化综合征（MAS）是多种儿科炎症性疾病的严重且致命的并发症。Kabuki 综合征（KS）主要由赖氨酸甲基转移酶 2D（; OMIM 602113）变异引起，是一种罕见的先天性多器官缺陷疾病。迄今为止，尚无 KS 患者发生 MAS 的报道。本报告描述了一例 22 岁男性 Kabuki 综合征（KS）患者发生 MAS 的病例。这一独特的病例不仅加深了对 在免疫调节和疾病中的作用的理解，还扩展了成年患者的表型，以更好地了解伴有自身免疫性疾病的 KS 患者的自然病史、疾病负担和管理。
