An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome

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KÖKER M. Y., Ture Z., Koker N., METAN G.

ERCIYES MEDICAL JOURNAL, vol.42, no.2, pp.229-232, 2020 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 2
  • Publication Date: 2020
  • Doi Number: 10.14744/etd.2020.79577
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Academic Search Premier, CAB Abstracts, EMBASE, Veterinary Science Database, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.229-232
  • Hacettepe University Affiliated: Yes


Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency that arises from defects in the NADPH oxidase complex, primarily affecting the respiratory burst in neutrophils. Kabuki syndrome (KS) is a rare genetic syndrome and often present with facial, skeletal, visceral and cardiac anomalies, immunological defects and varying degrees of mental retardation. A 20-year-old male was admitted with the complaints of the recurrent abscess. He had a history of recurrent abscesses and long-term antituberculosis treatment. Cytometric functional analysis, Sanger sequencing and whole-exome sequencing were used for the diagnosis of CGD. Both AR-CGD (p67phox defect) with homozygous c.229C>T nonsense mutation in NCF2 gene and heterozygous nucleotide change c.3983G>A in the KMT2D gene causing a novel missense mutation p. Arg1328Gln resulted in Kabuki syndrome. To our knowledge, this is the first report of both CGD and Kabuki syndrome combined in a single patient. CGD is always considered for the differential diagnosis during BCGitis history and recurrent skin abscess.