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

• मुख्य लेखकों: Lucia Leonardi (लेखक), Alessia Testa (लेखक), Mariavittoria Feleppa (लेखक), Roberto Paparella (लेखक), Francesca Conti (लेखक), Antonio Marzollo (लेखक), Alberto Spalice (लेखक), Fiorina Giona (लेखक), Maria Gnazzo (लेखक), Gian Marco Andreoli (लेखक), Francesco Costantino (लेखक), Luigi Tarani (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2023-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...