Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.
NADPH oxidase
NOX
X-linked CGD variants
clinical severity
Journal
Clinical and experimental immunology
ISSN: 1365-2249
Titre abrégé: Clin Exp Immunol
Pays: England
ID NLM: 0057202
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
01
07
2020
revised:
25
08
2020
accepted:
07
09
2020
pubmed:
22
9
2020
medline:
17
8
2021
entrez:
21
9
2020
Statut:
ppublish
Résumé
Chronic granulomatous disease (CGD) is a rare inherited disorder in which phagocytes lack nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. The most common form is the X-linked CGD (X91-CGD), caused by mutations in the CYBB gene. Clinical, functional and genetic characterizations of 16 CGD cases of male patients and their relatives were performed. We classified them as suffering from different variants of CGD (X91
Identifiants
pubmed: 32954498
doi: 10.1111/cei.13520
pmc: PMC7806450
doi:
Substances chimiques
Membrane Glycoproteins
0
CYBB protein, human
EC 1.6.3.-
NADPH Oxidase 2
EC 1.6.3.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
247-266Informations de copyright
© 2020 British Society for Immunology.
Références
Proc Natl Acad Sci U S A. 1998 May 26;95(11):6085-90
pubmed: 9600921
Hum Genet. 2004 Oct;115(5):418-27
pubmed: 15338276
Cold Spring Harb Symp Quant Biol. 1986;51 Pt 1:177-83
pubmed: 3472714
Nature. 1987 Jun 25-Jul 1;327(6124):720-1
pubmed: 3600769
Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):9832-6
pubmed: 8234321
Biochim Biophys Acta. 2002 Apr 24;1586(3):316-30
pubmed: 11997083
Clin Exp Immunol. 2000 Dec;122(3):410-7
pubmed: 11122248
J Biol Chem. 2000 Mar 31;275(13):9425-32
pubmed: 10734088
J Clin Invest. 1994 Sep;94(3):1205-11
pubmed: 8083361
J Clin Invest. 2018 Aug 31;128(9):3957-3975
pubmed: 29969437
Anal Biochem. 1985 Oct;150(1):76-85
pubmed: 3843705
Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9
pubmed: 20167518
Methods Mol Biol. 2019;1982:3-16
pubmed: 31172463
J Biol Chem. 2005 Apr 15;280(15):14962-73
pubmed: 15684431
Blood. 1999 Oct 1;94(7):2497-504
pubmed: 10498623
J Leukoc Biol. 2007 Jan;81(1):238-49
pubmed: 17060362
Nature. 1970 Aug 15;227(5259):680-5
pubmed: 5432063
Blood. 2019 May 2;133(18):1977-1988
pubmed: 30723080
N Engl J Med. 2010 Dec 30;363(27):2600-10
pubmed: 21190454
Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65
pubmed: 20729109
FEBS J. 2008 Jul;275(13):3249-77
pubmed: 18513324
Medicine (Baltimore). 2000 May;79(3):155-69
pubmed: 10844935
J Clin Immunol. 2012 Oct;32(5):942-58
pubmed: 22562447
Blood. 1989 May 1;73(6):1686-94
pubmed: 2469497
Clin Immunol. 2019 Aug;205:1-5
pubmed: 31071452
Br Med Bull. 2016 Jun;118(1):50-63
pubmed: 26983962
Immunity. 1999 Feb;10(2):183-96
pubmed: 10072071
J Allergy Clin Immunol. 2019 Feb;143(2):782-785.e1
pubmed: 30312704
Redox Biol. 2015 Dec;6:135-156
pubmed: 26210446
Biochim Biophys Acta. 1998 Mar 5;1406(2):188-202
pubmed: 9573361
J Pediatr Hematol Oncol. 2002 Dec;24(9):791-4
pubmed: 12468931
J Biol Chem. 2011 Aug 12;286(32):28357-69
pubmed: 21659519
Biochem J. 2014 Dec 15;464(3):425-37
pubmed: 25252997
J Immunol. 1996 Sep 15;157(6):2418-29
pubmed: 8805641
J Biol Chem. 1998 Mar 13;273(11):6575-81
pubmed: 9497394
Semin Immunopathol. 2008 Jul;30(3):209-35
pubmed: 18509647
J Clin Immunol. 2009 Mar;29(2):215-30
pubmed: 18773283
Biochim Biophys Acta. 2009 Mar;1792(3):201-10
pubmed: 19708127
Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4654-9
pubmed: 10758162
J Biol Chem. 2010 Oct 22;285(43):33197-208
pubmed: 20724480
Free Radic Biol Med. 2017 Dec;113:1-15
pubmed: 28916473
Blood. 2000 Sep 1;96(5):1646-54
pubmed: 10961859
Blood. 1999 May 15;93(10):3512-20
pubmed: 10233904
J Infect Dis. 2003 Nov 15;188(10):1593-604
pubmed: 14624387
Eur J Hum Genet. 2013 Oct;21(10):1079-84
pubmed: 23340515
Eur J Biochem. 2000 Feb;267(4):1059-67
pubmed: 10672014
Scand J Clin Lab Invest Suppl. 1968;97:51-76
pubmed: 4179067
Blood. 1987 Aug;70(2):372-8
pubmed: 3475136
J Allergy Clin Immunol. 2019 Apr;143(4):1646-1649.e10
pubmed: 30639347
PLoS One. 2009;4(4):e5234
pubmed: 19381301
Proc Natl Acad Sci U S A. 1979 Sep;76(9):4350-4
pubmed: 388439
J Exp Med. 2001 Oct 1;194(7):915-26
pubmed: 11581314
J Biol Chem. 1999 Feb 12;274(7):4364-9
pubmed: 9933639
Anal Biochem. 1987 Apr;162(1):156-9
pubmed: 2440339