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CASE REPORT article

Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 15 - 2024 | doi: 10.3389/fimmu.2024.1412084

Case report: Macrophage Activation Syndrome in a Patient with Kabuki Syndrome

Provisionally accepted
Jingyuan Zhang Jingyuan Zhang Yuanbo Kang Yuanbo Kang Zenan Xia Zenan Xia Yuming Chong Yuming Chong Xiao Long Xiao Long *Min Shen Min Shen *
  • Peking Union Medical College Hospital (CAMS), Beijing, Beijing Municipality, China

The final, formatted version of the article will be published soon.

    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.

    Keywords: KMT2D, Kabuki syndrome, Macrophage Activation Syndrome, immunodeficiency, T cells

    Received: 04 Apr 2024; Accepted: 16 Jul 2024.

    Copyright: © 2024 Zhang, Kang, Xia, Chong, Long and Shen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Xiao Long, Peking Union Medical College Hospital (CAMS), Beijing, 100730, Beijing Municipality, China
    Min Shen, Peking Union Medical College Hospital (CAMS), Beijing, 100730, Beijing Municipality, China

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