PDF(Pubmed)
Abstract：
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.
摘要：
巨噬细胞激活综合征（MAS），是各种儿科炎症性疾病的严重和致命的并发症。歌舞uki综合征（KS），主要由赖氨酸甲基转移酶2D（KMT2D;OMIM602113）变体引起，是一种罕见的多器官缺陷的先天性疾病。迄今为止,在KS患者中没有MAS的报道.本报告描述了一例22岁的男性，患有Kabuki综合征（KS），患有MAS。这个独特的案例不仅加深了对KMT2D参与免疫调节和疾病的认识，但扩大了成年患者的表型，以更好地了解自然史，疾病负担,KS并发自身免疫性疾病患者的治疗。
