Kabuki syndrome complicated by severe immune thrombocytopenia and autoimmune thyroiditis: Identification of a novel pathogenic mutation.

This article discusses a rare case of Kabuki syndrome (KS) complicated by severe immune thrombocytopenia (ITP) and autoimmune thyroiditis (AIT). KS is a congenital disorder associated with mutations in the KMT2D or KDM6A genes. The presence of autoimmune disorders, such as ITP and AIT, in KS patients is rare. The article presents a case study of a 9-year-old boy with KS who had a novel pathogenic KMT2D mutation, delayed development, organ malformations, and severe ITP and AIT. The study highlights the importance of mutation identification for predicting disease phenotypes and autoimmune complications in KS. [Extracted from the article]