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

• Main Authors: Lucia Leonardi (Author), Alessia Testa (Author), Mariavittoria Feleppa (Author), Roberto Paparella (Author), Francesca Conti (Author), Antonio Marzollo (Author), Alberto Spalice (Author), Fiorina Giona (Author), Maria Gnazzo (Author), Gian Marco Andreoli (Author), Francesco Costantino (Author), Luigi Tarani (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...