ISSN: 2149-2247 | E-ISSN: 2149-2549
An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome [Erciyes Med J]
Erciyes Med J. 2020; 42(2): 229-232 | DOI: 10.14744/etd.2020.79577

An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome

Mustafa Yavuz Köker1, Zeynep Türe2, Nezihe Köker1, Gökhan Metan3
1Department of Immunology, Faculty of Medicine, University of Erciyes, Kayseri, Turkey
2Department of Infectious Disease, Faculty of Medicine, University of Erciyes, Kayseri, Turkey
3Department of Infectious Disease, Faculty of Medicine, University of Hacettepe, Ankara, Turkey

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.

Keywords: Chronic granulomatous disease, Kabuki syndrome, NCF2, NADPH oxidase, KMTD2.

Mustafa Yavuz Köker, Zeynep Türe, Nezihe Köker, Gökhan Metan. An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome. Erciyes Med J. 2020; 42(2): 229-232

Corresponding Author: Mustafa Yavuz Köker, Türkiye
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