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Published on: June 30, 2016
Case report: Macrophage activation syndrome in a patient with Kabuki syndrome
Jingyuan Zhang1, Yuanbo Kang2, Zenan Xia2
1Department 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.
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.
Insights
Macrophage activation syndrome (MAS), a severe complication of pediatric inflammatory disorders, was reported in a Kabuki syndrome (KS) patient. This case highlights KMT2D gene variants
Area of Science:
- Genetics
- Immunology
- Pediatrics
Background:
- Kabuki syndrome (KS) is a rare congenital disorder primarily caused by KMT2D gene variants, often presenting with multi-organ deficiencies.
- Macrophage activation syndrome (MAS) is a severe, life-threatening complication associated with various pediatric inflammatory disorders.
Observation:
- This report details a unique case of a 22-year-old male with diagnosed Kabuki syndrome who developed MAS.
- This is the first reported instance of MAS occurring in a patient with KS.
Findings:
- The KMT2D gene plays a crucial role in immune regulation, as evidenced by this case.
- The development of MAS in a KS patient expands the known clinical spectrum of KS.
Implications:
- This case deepens the understanding of KMT2D's involvement in immune system function and disease pathogenesis.
- Further research into the natural history, disease burden, and management strategies for KS patients with autoimmune complications is warranted.
