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...
Ausführliche Beschreibung
Autor*in: |
Mustafa Yavuz Köker [verfasserIn] Zeynep Türe [verfasserIn] Nezihe Köker [verfasserIn] Gökhan Metan [verfasserIn] |
---|
Format: |
E-Artikel |
---|---|
Sprache: |
Englisch |
Erschienen: |
2020 |
---|
Schlagwörter: |
---|
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: |
---|
DOI / URN: |
10.14744/etd.2020.79577 |
---|
Katalog-ID: |
DOAJ057561052 |
---|
LEADER | 01000caa a22002652 4500 | ||
---|---|---|---|
001 | DOAJ057561052 | ||
003 | DE-627 | ||
005 | 20230310183119.0 | ||
007 | cr uuu---uuuuu | ||
008 | 230227s2020 xx |||||o 00| ||eng c | ||
024 | 7 | |a 10.14744/etd.2020.79577 |2 doi | |
035 | |a (DE-627)DOAJ057561052 | ||
035 | |a (DE-599)DOAJ7d38b4ed13cd4d1893ff62825f9125ef | ||
040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
041 | |a eng | ||
050 | 0 | |a R5-920 | |
100 | 0 | |a Mustafa Yavuz Köker |e verfasserin |4 aut | |
245 | 1 | 3 | |a An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome |
264 | 1 | |c 2020 | |
336 | |a Text |b txt |2 rdacontent | ||
337 | |a Computermedien |b c |2 rdamedia | ||
338 | |a Online-Ressource |b cr |2 rdacarrier | ||
520 | |a 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. | ||
650 | 4 | |a chronic granulomatous disease | |
650 | 4 | |a kabuki syndrome | |
650 | 4 | |a ncf2 | |
650 | 4 | |a nadph oxidase | |
650 | 4 | |a kmtd2. | |
653 | 0 | |a Medicine (General) | |
700 | 0 | |a Zeynep Türe |e verfasserin |4 aut | |
700 | 0 | |a Nezihe Köker |e verfasserin |4 aut | |
700 | 0 | |a Gökhan Metan |e verfasserin |4 aut | |
773 | 0 | 8 | |i In |t Erciyes Medical Journal |d KARE Publishing, 2019 |g 42(2020), 2, Seite 229-232 |w (DE-627)374139571 |w (DE-600)2127182-3 |x 21492549 |7 nnns |
773 | 1 | 8 | |g volume:42 |g year:2020 |g number:2 |g pages:229-232 |
856 | 4 | 0 | |u https://doi.org/10.14744/etd.2020.79577 |z kostenfrei |
856 | 4 | 0 | |u https://doaj.org/article/7d38b4ed13cd4d1893ff62825f9125ef |z kostenfrei |
856 | 4 | 0 | |u https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-79577 |z kostenfrei |
856 | 4 | 2 | |u https://doaj.org/toc/2149-2247 |y Journal toc |z kostenfrei |
912 | |a GBV_USEFLAG_A | ||
912 | |a SYSFLAG_A | ||
912 | |a GBV_DOAJ | ||
912 | |a GBV_ILN_11 | ||
912 | |a GBV_ILN_20 | ||
912 | |a GBV_ILN_22 | ||
912 | |a GBV_ILN_23 | ||
912 | |a GBV_ILN_24 | ||
912 | |a GBV_ILN_31 | ||
912 | |a GBV_ILN_39 | ||
912 | |a GBV_ILN_40 | ||
912 | |a GBV_ILN_60 | ||
912 | |a GBV_ILN_62 | ||
912 | |a GBV_ILN_63 | ||
912 | |a GBV_ILN_65 | ||
912 | |a GBV_ILN_69 | ||
912 | |a GBV_ILN_73 | ||
912 | |a GBV_ILN_74 | ||
912 | |a GBV_ILN_95 | ||
912 | |a GBV_ILN_105 | ||
912 | |a GBV_ILN_110 | ||
912 | |a GBV_ILN_151 | ||
912 | |a GBV_ILN_161 | ||
912 | |a GBV_ILN_170 | ||
912 | |a GBV_ILN_206 | ||
912 | |a GBV_ILN_213 | ||
912 | |a GBV_ILN_230 | ||
912 | |a GBV_ILN_285 | ||
912 | |a GBV_ILN_293 | ||
912 | |a GBV_ILN_602 | ||
912 | |a GBV_ILN_2003 | ||
912 | |a GBV_ILN_2005 | ||
912 | |a GBV_ILN_2009 | ||
912 | |a GBV_ILN_2011 | ||
912 | |a GBV_ILN_2014 | ||
912 | |a GBV_ILN_2055 | ||
912 | |a GBV_ILN_2111 | ||
912 | |a GBV_ILN_4012 | ||
912 | |a GBV_ILN_4037 | ||
912 | |a GBV_ILN_4112 | ||
912 | |a GBV_ILN_4125 | ||
912 | |a GBV_ILN_4126 | ||
912 | |a GBV_ILN_4249 | ||
912 | |a GBV_ILN_4305 | ||
912 | |a GBV_ILN_4306 | ||
912 | |a GBV_ILN_4307 | ||
912 | |a GBV_ILN_4313 | ||
912 | |a GBV_ILN_4322 | ||
912 | |a GBV_ILN_4323 | ||
912 | |a GBV_ILN_4324 | ||
912 | |a GBV_ILN_4325 | ||
912 | |a GBV_ILN_4338 | ||
912 | |a GBV_ILN_4367 | ||
912 | |a GBV_ILN_4700 | ||
951 | |a AR | ||
952 | |d 42 |j 2020 |e 2 |h 229-232 |
author_variant |
m y k myk z t zt n k nk g m gm |
---|---|
matchkey_str |
article:21492549:2020----::ntpclaeihhoigauoaosies |
hierarchy_sort_str |
2020 |
callnumber-subject-code |
R |
publishDate |
2020 |
allfields |
10.14744/etd.2020.79577 doi (DE-627)DOAJ057561052 (DE-599)DOAJ7d38b4ed13cd4d1893ff62825f9125ef DE-627 ger DE-627 rakwb eng R5-920 Mustafa Yavuz Köker verfasserin aut An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. chronic granulomatous disease kabuki syndrome ncf2 nadph oxidase kmtd2. Medicine (General) Zeynep Türe verfasserin aut Nezihe Köker verfasserin aut Gökhan Metan verfasserin aut In Erciyes Medical Journal KARE Publishing, 2019 42(2020), 2, Seite 229-232 (DE-627)374139571 (DE-600)2127182-3 21492549 nnns volume:42 year:2020 number:2 pages:229-232 https://doi.org/10.14744/etd.2020.79577 kostenfrei https://doaj.org/article/7d38b4ed13cd4d1893ff62825f9125ef kostenfrei https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-79577 kostenfrei https://doaj.org/toc/2149-2247 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 42 2020 2 229-232 |
spelling |
10.14744/etd.2020.79577 doi (DE-627)DOAJ057561052 (DE-599)DOAJ7d38b4ed13cd4d1893ff62825f9125ef DE-627 ger DE-627 rakwb eng R5-920 Mustafa Yavuz Köker verfasserin aut An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. chronic granulomatous disease kabuki syndrome ncf2 nadph oxidase kmtd2. Medicine (General) Zeynep Türe verfasserin aut Nezihe Köker verfasserin aut Gökhan Metan verfasserin aut In Erciyes Medical Journal KARE Publishing, 2019 42(2020), 2, Seite 229-232 (DE-627)374139571 (DE-600)2127182-3 21492549 nnns volume:42 year:2020 number:2 pages:229-232 https://doi.org/10.14744/etd.2020.79577 kostenfrei https://doaj.org/article/7d38b4ed13cd4d1893ff62825f9125ef kostenfrei https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-79577 kostenfrei https://doaj.org/toc/2149-2247 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 42 2020 2 229-232 |
allfields_unstemmed |
10.14744/etd.2020.79577 doi (DE-627)DOAJ057561052 (DE-599)DOAJ7d38b4ed13cd4d1893ff62825f9125ef DE-627 ger DE-627 rakwb eng R5-920 Mustafa Yavuz Köker verfasserin aut An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. chronic granulomatous disease kabuki syndrome ncf2 nadph oxidase kmtd2. Medicine (General) Zeynep Türe verfasserin aut Nezihe Köker verfasserin aut Gökhan Metan verfasserin aut In Erciyes Medical Journal KARE Publishing, 2019 42(2020), 2, Seite 229-232 (DE-627)374139571 (DE-600)2127182-3 21492549 nnns volume:42 year:2020 number:2 pages:229-232 https://doi.org/10.14744/etd.2020.79577 kostenfrei https://doaj.org/article/7d38b4ed13cd4d1893ff62825f9125ef kostenfrei https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-79577 kostenfrei https://doaj.org/toc/2149-2247 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 42 2020 2 229-232 |
allfieldsGer |
10.14744/etd.2020.79577 doi (DE-627)DOAJ057561052 (DE-599)DOAJ7d38b4ed13cd4d1893ff62825f9125ef DE-627 ger DE-627 rakwb eng R5-920 Mustafa Yavuz Köker verfasserin aut An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. chronic granulomatous disease kabuki syndrome ncf2 nadph oxidase kmtd2. Medicine (General) Zeynep Türe verfasserin aut Nezihe Köker verfasserin aut Gökhan Metan verfasserin aut In Erciyes Medical Journal KARE Publishing, 2019 42(2020), 2, Seite 229-232 (DE-627)374139571 (DE-600)2127182-3 21492549 nnns volume:42 year:2020 number:2 pages:229-232 https://doi.org/10.14744/etd.2020.79577 kostenfrei https://doaj.org/article/7d38b4ed13cd4d1893ff62825f9125ef kostenfrei https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-79577 kostenfrei https://doaj.org/toc/2149-2247 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 42 2020 2 229-232 |
allfieldsSound |
10.14744/etd.2020.79577 doi (DE-627)DOAJ057561052 (DE-599)DOAJ7d38b4ed13cd4d1893ff62825f9125ef DE-627 ger DE-627 rakwb eng R5-920 Mustafa Yavuz Köker verfasserin aut An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. chronic granulomatous disease kabuki syndrome ncf2 nadph oxidase kmtd2. Medicine (General) Zeynep Türe verfasserin aut Nezihe Köker verfasserin aut Gökhan Metan verfasserin aut In Erciyes Medical Journal KARE Publishing, 2019 42(2020), 2, Seite 229-232 (DE-627)374139571 (DE-600)2127182-3 21492549 nnns volume:42 year:2020 number:2 pages:229-232 https://doi.org/10.14744/etd.2020.79577 kostenfrei https://doaj.org/article/7d38b4ed13cd4d1893ff62825f9125ef kostenfrei https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-79577 kostenfrei https://doaj.org/toc/2149-2247 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 42 2020 2 229-232 |
language |
English |
source |
In Erciyes Medical Journal 42(2020), 2, Seite 229-232 volume:42 year:2020 number:2 pages:229-232 |
sourceStr |
In Erciyes Medical Journal 42(2020), 2, Seite 229-232 volume:42 year:2020 number:2 pages:229-232 |
format_phy_str_mv |
Article |
institution |
findex.gbv.de |
topic_facet |
chronic granulomatous disease kabuki syndrome ncf2 nadph oxidase kmtd2. Medicine (General) |
isfreeaccess_bool |
true |
container_title |
Erciyes Medical Journal |
authorswithroles_txt_mv |
Mustafa Yavuz Köker @@aut@@ Zeynep Türe @@aut@@ Nezihe Köker @@aut@@ Gökhan Metan @@aut@@ |
publishDateDaySort_date |
2020-01-01T00:00:00Z |
hierarchy_top_id |
374139571 |
id |
DOAJ057561052 |
language_de |
englisch |
fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ057561052</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230310183119.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230227s2020 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.14744/etd.2020.79577</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ057561052</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ7d38b4ed13cd4d1893ff62825f9125ef</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">R5-920</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Mustafa Yavuz Köker</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="3"><subfield code="a">An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2020</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">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&gt;T nonsense mutation in NCF2 gene and heterozygous nucleotide change c.3983G&gt;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.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">chronic granulomatous disease</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">kabuki syndrome</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">ncf2</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">nadph oxidase</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">kmtd2.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine (General)</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Zeynep Türe</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Nezihe Köker</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Gökhan Metan</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Erciyes Medical Journal</subfield><subfield code="d">KARE Publishing, 2019</subfield><subfield code="g">42(2020), 2, Seite 229-232</subfield><subfield code="w">(DE-627)374139571</subfield><subfield code="w">(DE-600)2127182-3</subfield><subfield code="x">21492549</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:42</subfield><subfield code="g">year:2020</subfield><subfield code="g">number:2</subfield><subfield code="g">pages:229-232</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.14744/etd.2020.79577</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/7d38b4ed13cd4d1893ff62825f9125ef</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-79577</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2149-2247</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_11</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_31</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2003</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2005</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2009</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2011</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2055</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2111</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">42</subfield><subfield code="j">2020</subfield><subfield code="e">2</subfield><subfield code="h">229-232</subfield></datafield></record></collection>
|
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 |
authorStr |
Mustafa Yavuz Köker |
ppnlink_with_tag_str_mv |
@@773@@(DE-627)374139571 |
format |
electronic Article |
delete_txt_mv |
keep |
author_role |
aut aut aut aut |
collection |
DOAJ |
remote_str |
true |
callnumber-label |
R5-920 |
illustrated |
Not Illustrated |
issn |
21492549 |
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) |
topic_browse |
misc R5-920 misc chronic granulomatous disease misc kabuki syndrome misc ncf2 misc nadph oxidase misc kmtd2. misc Medicine (General) |
format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
format_main_str_mv |
Text Zeitschrift/Artikel |
carriertype_str_mv |
cr |
hierarchy_parent_title |
Erciyes Medical Journal |
hierarchy_parent_id |
374139571 |
hierarchy_top_title |
Erciyes Medical Journal |
isfreeaccess_txt |
true |
familylinks_str_mv |
(DE-627)374139571 (DE-600)2127182-3 |
title |
An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome |
ctrlnum |
(DE-627)DOAJ057561052 (DE-599)DOAJ7d38b4ed13cd4d1893ff62825f9125ef |
title_full |
An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome |
author_sort |
Mustafa Yavuz Köker |
journal |
Erciyes Medical Journal |
journalStr |
Erciyes Medical Journal |
callnumber-first-code |
R |
lang_code |
eng |
isOA_bool |
true |
recordtype |
marc |
publishDateSort |
2020 |
contenttype_str_mv |
txt |
container_start_page |
229 |
author_browse |
Mustafa Yavuz Köker Zeynep Türe Nezihe Köker Gökhan Metan |
container_volume |
42 |
class |
R5-920 |
format_se |
Elektronische Aufsätze |
author-letter |
Mustafa Yavuz Köker |
doi_str_mv |
10.14744/etd.2020.79577 |
author2-role |
verfasserin |
title_sort |
atypical case with chronic granulomatous disease and kabuki syndrome |
callnumber |
R5-920 |
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. |
collection_details |
GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 |
container_issue |
2 |
title_short |
An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome |
url |
https://doi.org/10.14744/etd.2020.79577 https://doaj.org/article/7d38b4ed13cd4d1893ff62825f9125ef https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-79577 https://doaj.org/toc/2149-2247 |
remote_bool |
true |
author2 |
Zeynep Türe Nezihe Köker Gökhan Metan |
author2Str |
Zeynep Türe Nezihe Köker Gökhan Metan |
ppnlink |
374139571 |
callnumber-subject |
R - General Medicine |
mediatype_str_mv |
c |
isOA_txt |
true |
hochschulschrift_bool |
false |
doi_str |
10.14744/etd.2020.79577 |
callnumber-a |
R5-920 |
up_date |
2024-07-04T02:08:12.808Z |
_version_ |
1803612473589235712 |
fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ057561052</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230310183119.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230227s2020 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.14744/etd.2020.79577</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ057561052</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ7d38b4ed13cd4d1893ff62825f9125ef</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">R5-920</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Mustafa Yavuz Köker</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="3"><subfield code="a">An Atypical Case with Chronic Granulomatous Disease and Kabuki Syndrome</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2020</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">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&gt;T nonsense mutation in NCF2 gene and heterozygous nucleotide change c.3983G&gt;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.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">chronic granulomatous disease</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">kabuki syndrome</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">ncf2</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">nadph oxidase</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">kmtd2.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine (General)</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Zeynep Türe</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Nezihe Köker</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Gökhan Metan</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Erciyes Medical Journal</subfield><subfield code="d">KARE Publishing, 2019</subfield><subfield code="g">42(2020), 2, Seite 229-232</subfield><subfield code="w">(DE-627)374139571</subfield><subfield code="w">(DE-600)2127182-3</subfield><subfield code="x">21492549</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:42</subfield><subfield code="g">year:2020</subfield><subfield code="g">number:2</subfield><subfield code="g">pages:229-232</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.14744/etd.2020.79577</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/7d38b4ed13cd4d1893ff62825f9125ef</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-79577</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2149-2247</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_11</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_31</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2003</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2005</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2009</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2011</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2055</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2111</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">42</subfield><subfield code="j">2020</subfield><subfield code="e">2</subfield><subfield code="h">229-232</subfield></datafield></record></collection>
|
score |
7.399063 |