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 journalArticle

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 1 2019

Fingerprint

Exome
Hodgkin Disease
Phenotype
Lipomatosis
Immune System
Transplants
Genes
Kabuki syndrome

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype. / Kaiwar, Charu; Kruisselbrink, Teresa M.; Kudva, Yogish C; Klee, Eric W; Pichurin, Pavel.

In: Clinical Immunology, Vol. 207, 01.10.2019, p. 55-57.

Research output: Contribution to journalArticle

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