An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome

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 anom...
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Autor*in:	Mustafa Yavuz Köker [verfasserIn] Zeynep Türe [verfasserIn] Nezihe Köker [verfasserIn] Gökhan Metan [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2020

Schlagwörter:	chronic granulomatous disease kabuki syndrome ncf2 nadph oxidase kmtd2.

Übergeordnetes Werk:	In: Erciyes Medical Journal - KARE Publishing, 2019, 42(2020), 2, Seite 229-232
Übergeordnetes Werk:	volume:42 ; year:2020 ; number:2 ; pages:229-232

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.14744/etd.2020.79577

Katalog-ID:	DOAJ057561052

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callnumber-first	R - Medicine
author	Mustafa Yavuz Köker
spellingShingle	Mustafa Yavuz Köker misc R5-920 misc chronic granulomatous disease misc kabuki syndrome misc ncf2 misc nadph oxidase misc kmtd2. misc Medicine (General) An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome
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topic_title	R5-920 An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome chronic granulomatous disease kabuki syndrome ncf2 nadph oxidase kmtd2
topic	misc R5-920 misc chronic granulomatous disease misc kabuki syndrome misc ncf2 misc nadph oxidase misc kmtd2. misc Medicine (General)
topic_unstemmed	misc R5-920 misc chronic granulomatous disease misc kabuki syndrome misc ncf2 misc nadph oxidase misc kmtd2. misc Medicine (General)
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title	An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome
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title_full	An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome
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title_sort	atypical case with chronic granulomatous disease and kabuki syndrome
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title_auth	An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome
abstract	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.
abstractGer	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.
abstract_unstemmed	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.
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title_short	An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome
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An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome

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