Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia

Kabuki syndrome (KS) is a rare multisystemic disease due to mutations in the KMT2D or KDM6A genes, which act as epigenetic modulators of different processes, including immune response. The syndrome is characterized by anomalies in multiple organ systems, and it is associated with autoimmune and infl...

Descripción completa

Detalles Bibliográficos
Autores principales: Leonardi, Lucia, Testa, Alessia, Feleppa, Mariavittoria, Paparella, Roberto, Conti, Francesca, Marzollo, Antonio, Spalice, Alberto, Giona, Fiorina, Gnazzo, Maria, Andreoli, Gian Marco, Costantino, Francesco, Tarani, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288106/
https://www.ncbi.nlm.nih.gov/pubmed/37360370
http://dx.doi.org/10.3389/fped.2023.1087002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10288106/
https://www.ncbi.nlm.nih.gov/pubmed/37360370
http://dx.doi.org/10.3389/fped.2023.1087002

Ejemplares similares