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

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...

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Bibliographic Details
Main Authors: Lucia Leonardi, Alessia Testa, Mariavittoria Feleppa, Roberto Paparella, Francesca Conti, Antonio Marzollo, Alberto Spalice, Fiorina Giona, Maria Gnazzo, Gian Marco Andreoli, Francesco Costantino, Luigi Tarani
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Pediatrics
Subjects:
Kabuki syndrome
Evans syndrome
autoimmunity
immunodeficiency
hypogammaglobulinemia
immune dysregulation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1087002/full

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