Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.
Humans
Male
Vestibular Diseases
/ etiology
Hematologic Diseases
/ etiology
Face
/ abnormalities
Abnormalities, Multiple
/ genetics
Macrophage Activation Syndrome
/ diagnosis
Young Adult
Neoplasm Proteins
/ genetics
Phenotype
Histone-Lysine N-Methyltransferase
/ genetics
DNA-Binding Proteins
/ genetics
KMT2D
Kabuki syndrome
T cells
immunodeficiency
macrophage activation syndrome
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2024
2024
Historique:
received:
04
04
2024
accepted:
16
07
2024
medline:
14
8
2024
pubmed:
14
8
2024
entrez:
14
8
2024
Statut:
epublish
Résumé
Macrophage activation syndrome (MAS), is a severe and fatal complication of various pediatric inflammatory disorders. Kabuki syndrome (KS), mainly caused by lysine methyltransferase 2D (
Identifiants
pubmed: 39139573
doi: 10.3389/fimmu.2024.1412084
pmc: PMC11319294
doi:
Substances chimiques
KMT2D protein, human
0
Neoplasm Proteins
0
Histone-Lysine N-Methyltransferase
EC 2.1.1.43
DNA-Binding Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1412084Informations de copyright
Copyright © 2024 Zhang, Kang, Xia, Chong, Long and Shen.
Déclaration de conflit d'intérêts
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.