Abstract
We report a 34-year-old male patient with a novel variant in KMT2D gene, which finally ended a quest for a diagnosis that was clinically suspected in the past, prior the molecular basis of Kabuki Syndrome (KS) was known. The patient showcases the multisystemic features, with involvement of all previously associated with KS body systems, presence of immune deficiency as well as autoimmune disorders, requiring three pancreatic transplants. We also report, for the first time to our knowledge, the presence of epidural lipomatosis and Hodgkin Lymphoma in a patient with KS.
Original language | English (US) |
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Pages (from-to) | 55-57 |
Number of pages | 3 |
Journal | Clinical Immunology |
Volume | 207 |
DOIs | |
State | Published - Oct 2019 |
ASJC Scopus subject areas
- Immunology and Allergy
- Immunology