Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα).
Journal
Science immunology
ISSN: 2470-9468
Titre abrégé: Sci Immunol
Pays: United States
ID NLM: 101688624
Informations de publication
Date de publication:
17 Sep 2021
17 Sep 2021
Historique:
entrez:
17
9
2021
pubmed:
18
9
2021
medline:
1
3
2022
Statut:
ppublish
Résumé
Inhibitor of nuclear factor kappa B kinase alpha (IKKα) is critical for p100/NF-κB2 phosphorylation and processing into p52 and activation of the noncanonical NF-κB pathway. A patient with recurrent infections, skeletal abnormalities, absent secondary lymphoid structures, reduced B cell numbers, hypogammaglobulinemia, and lymphocytic infiltration of intestine and liver was found to have a homozygous p.Y580C mutation in the helix-loop-helix domain of IKKα. The mutation preserves IKKα kinase activity but abolishes the interaction of IKKα with its activator NF-κB–inducing kinase and impairs lymphotoxin-β–driven p100/NF-κB2 processing and
Identifiants
pubmed: 34533979
doi: 10.1126/sciimmunol.abf6723
pmc: PMC8930078
mid: NIHMS1787196
doi:
Substances chimiques
CHUK protein, human
EC 2.7.11.10
I-kappa B Kinase
EC 2.7.11.10
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
eabf6723Subventions
Organisme : NIAID NIH HHS
ID : K08 AI116979
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI139633
Pays : United States
Références
Eur J Immunol. 1996 Mar;26(3):669-75
pubmed: 8605936
J Clin Invest. 2003 Oct;112(7):1108-15
pubmed: 14523047
J Exp Med. 2003 Sep 1;198(5):757-69
pubmed: 12953095
EMBO J. 2002 Oct 15;21(20):5375-85
pubmed: 12374738
EMBO J. 2008 Oct 22;27(20):2639-47
pubmed: 18818691
J Clin Immunol. 2013 Oct;33(7):1165-74
pubmed: 23864385
Clin J Am Soc Nephrol. 2016 Jan 7;11(1):137-54
pubmed: 26700440
J Exp Med. 2015 Sep 21;212(10):1483
pubmed: 26392427
J Immunol. 2015 Aug 1;195(3):953-64
pubmed: 26116508
Nat Commun. 2019 Feb 8;10(1):660
pubmed: 30737385
Eur J Immunol. 1994 Feb;24(2):429-34
pubmed: 8299692
Br J Pharmacol. 2003 Jan;138(1):1-3
pubmed: 12522065
Nat Genet. 1999 May;22(1):74-7
pubmed: 10319865
Cell Res. 2011 Feb;21(2):223-44
pubmed: 21243012
Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6359-64
pubmed: 17404218
Gastroenterology. 2002 Jun;122(7):1853-68
pubmed: 12055593
Proc Natl Acad Sci U S A. 2011 Aug 16;108(33):13700-4
pubmed: 21808010
Proc Natl Acad Sci U S A. 2015 Nov 24;112(47):14664-9
pubmed: 26561586
Nature. 2001 Apr 5;410(6829):710-4
pubmed: 11287960
Cell Rep. 2016 Nov 15;17(8):1907-1914
pubmed: 27851956
Immunity. 2002 Oct;17(4):525-35
pubmed: 12387745
Front Immunol. 2014 Jan 06;4:509
pubmed: 24432023
J Clin Invest. 2010 May;120(5):1762-73
pubmed: 20364087
Immunol Rev. 2013 Jan;251(1):160-76
pubmed: 23278748
Cold Spring Harb Perspect Biol. 2010 Mar;2(3):a000158
pubmed: 20300203
J Immunol. 2006 Apr 1;176(7):3995-4002
pubmed: 16547234
J Exp Med. 2011 Apr 11;208(4):787-96
pubmed: 21402739
J Exp Med. 2015 Sep 21;212(10):1513-28
pubmed: 26371187
J Leukoc Biol. 2018 Aug;104(2):275-284
pubmed: 29485734
Am J Hum Genet. 2013 Nov 7;93(5):812-24
pubmed: 24140114
J Clin Invest. 2014 Dec;124(12):5191-204
pubmed: 25347469
J Immunol. 2018 Feb 15;200(4):1325-1334
pubmed: 29298831
Blood. 2009 Jun 25;113(26):6603-10
pubmed: 19411637
Immunity. 2008 Sep 19;29(3):386-8
pubmed: 18799147
Nat Rev Immunol. 2014 Jun;14(6):377-91
pubmed: 24830344
Nat Immunol. 2007 Apr;8(4):351-8
pubmed: 17322887
Immunity. 2008 Sep 19;29(3):423-37
pubmed: 18799149
J Immunol. 2003 Mar 15;170(6):2895-903
pubmed: 12626540
J Exp Med. 2013 Feb 11;210(2):269-85
pubmed: 23337809
Nat Cell Biol. 2007 Apr;9(4):461-9
pubmed: 17351639
J Exp Med. 2021 Feb 1;218(2):
pubmed: 33107914
J Clin Aesthet Dermatol. 2016 Apr;9(4):52-54
pubmed: 27721911
Immunol Rev. 2012 Mar;246(1):125-40
pubmed: 22435551
Nat Genet. 2001 Mar;27(3):277-85
pubmed: 11242109
Immunity. 2002 Oct;17(4):515-24
pubmed: 12387744
Nature. 2004 Apr 8;428(6983):660-4
pubmed: 15071597
Elife. 2020 Aug 25;9:
pubmed: 32840480
Science. 1999 Apr 9;284(5412):313-6
pubmed: 10195895
Nat Rev Immunol. 2003 Apr;3(4):292-303
pubmed: 12669020
J Exp Med. 2017 Jul 3;214(7):1937-1947
pubmed: 28600438
Genes Dev. 1999 May 15;13(10):1322-8
pubmed: 10346820
J Exp Med. 1997 Jan 20;185(2):357-62
pubmed: 9016884
N Engl J Med. 2010 Oct 21;363(17):1631-7
pubmed: 20961246
Proc Natl Acad Sci U S A. 2019 Sep 17;116(38):19090-19097
pubmed: 31481626
J Biol Chem. 2004 Jul 16;279(29):30099-105
pubmed: 15140882
Int Immunopharmacol. 2017 Feb;43:1-6
pubmed: 27936459
Dis Model Mech. 2017 Dec 19;10(12):1517-1527
pubmed: 29259025
Cell. 1995 Jan 27;80(2):331-40
pubmed: 7834753
Curr Biol. 2001 Oct 2;11(19):1547-52
pubmed: 11591325
Biochim Biophys Acta. 2014 Sep;1843(9):1796-1804
pubmed: 24747690
Trends Immunol. 2010 Apr;31(4):144-53
pubmed: 20181529
J Allergy Clin Immunol. 2019 Aug;144(2):606-608.e4
pubmed: 31103457
Sci Rep. 2017 Nov 15;7(1):15631
pubmed: 29142248
Nat Immunol. 2020 Oct;21(10):1172-1180
pubmed: 32839611
Clin Immunol. 2020 Sep;218:108511
pubmed: 32569845
Nature. 1995 Feb 9;373(6514):531-6
pubmed: 7845467
Proc Natl Acad Sci U S A. 2008 Feb 19;105(7):2487-92
pubmed: 18268325
Nat Immunol. 2002 Oct;3(10):958-65
pubmed: 12352969
Front Immunol. 2018 Oct 08;9:2285
pubmed: 30349534
J Exp Med. 2003 Sep 1;198(5):771-81
pubmed: 12939342
J Exp Med. 2011 Aug 29;208(9):1917-29
pubmed: 21807870
Immunity. 2017 Jul 18;47(1):80-92.e4
pubmed: 28709801
Proc Natl Acad Sci U S A. 2007 Oct 2;104(40):15817-22
pubmed: 17893340
Nat Genet. 2016 Jan;48(1):74-8
pubmed: 26642240
J Immunol. 2012 May 1;188(9):4602-10
pubmed: 22474019
Signal Transduct Target Ther. 2017;2:
pubmed: 29158945
Cell Biosci. 2015 Nov 16;5:63
pubmed: 26579219
Int Immunol. 2009 Apr;21(4):467-76
pubmed: 19251935
Nat Immunol. 2016 Aug;17(8):946-55
pubmed: 27348411
Nat Commun. 2014 Nov 19;5:5360
pubmed: 25406581
Nat Rev Immunol. 2017 Sep;17(9):545-558
pubmed: 28580957
Cell. 2015 Nov 5;163(4):975-87
pubmed: 26544942
Cell. 2008 Feb 8;132(3):344-62
pubmed: 18267068
Nat Rev Immunol. 2010 Sep;10(9):664-74
pubmed: 20706277
Front Immunol. 2018 Apr 09;9:613
pubmed: 29686669