Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype

Charu Kaiwar, Teresa M. Kruisselbrink, Yogish C. Kudva, Eric W. Klee, Pavel Pichurin

Research output: Contribution to journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)55-57
Number of pages3
JournalClinical Immunology
Volume207
DOIs
StatePublished - Oct 2019

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Fingerprint Dive into the research topics of 'Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype'. Together they form a unique fingerprint.

Cite this