Novel Heterozygous Mutation in
NF-κB2
NK cell deficiency
common variable immunodeficiency (CVID)
nephrotic syndrome
pituitary deficiency
primary immunodeficiency
systemic cytomegalovirus
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2019
2019
Historique:
received:
04
01
2019
accepted:
08
07
2019
entrez:
17
8
2019
pubmed:
17
8
2019
medline:
17
8
2019
Statut:
epublish
Résumé
Nuclear factor kappa-B subunit 2 (NF-κB2/p100/p52), encoded by
Identifiants
pubmed: 31417880
doi: 10.3389/fped.2019.00303
pmc: PMC6682634
doi:
Types de publication
Case Reports
Langues
eng
Pagination
303Subventions
Organisme : NHGRI NIH HHS
ID : K08 HG008986
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI120989
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS105078
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Références
Biochem J. 2004 Sep 1;382(Pt 2):393-409
pubmed: 15214841
Eur J Pediatr. 1991 Apr;150(6):400-2
pubmed: 1645668
Pediatr Nephrol. 2006 May;21(5):740-2
pubmed: 16523262
J Clin Invest. 2006 Nov;116(11):2964-71
pubmed: 17039258
J Immunol. 2007 Dec 1;179(11):7514-22
pubmed: 18025196
Mymensingh Med J. 2008 Jul;17(2):210-3
pubmed: 18626461
J Immunol. 2009 Mar 1;182(5):2690-9
pubmed: 19234163
Cell Res. 2011 Jan;21(1):71-85
pubmed: 21173796
J Allergy Clin Immunol. 2011 Jun;127(6):1579-86
pubmed: 21514638
J Clin Endocrinol Metab. 2012 Jan;97(1):E121-8
pubmed: 22013103
Immunol Rev. 2012 Mar;246(1):125-40
pubmed: 22435551
J Korean Med Sci. 2012 Nov;27(11):1436-8
pubmed: 23166431
Eur J Immunol. 2012 Dec;42(12):3141-5
pubmed: 23255011
Am J Hum Genet. 2013 Nov 7;93(5):812-24
pubmed: 24140114
J Clin Immunol. 2014 Aug;34(6):686-90
pubmed: 24888602
Pediatr Nephrol. 2014 Dec;29(12):2325-31
pubmed: 24899237
J Clin Immunol. 2014 Nov;34(8):910-5
pubmed: 25205549
Blood. 2014 Nov 6;124(19):2964-72
pubmed: 25237204
Nat Commun. 2014 Nov 19;5:5360
pubmed: 25406581
BMC Med Genet. 2014 Dec 19;15:139
pubmed: 25524009
J Allergy Clin Immunol. 2015 Jun;135(6):1641-3
pubmed: 25605273
NDT Plus. 2010 Oct;3(5):456-8
pubmed: 25984052
J Immunol. 2015 Aug 1;195(3):953-64
pubmed: 26116508
BMC Nephrol. 2015 Sep 22;16:156
pubmed: 26395882
J Med Genet. 2016 Sep;53(9):575-90
pubmed: 27250108
Haematologica. 2016 Oct;101(10):e392-e396
pubmed: 27365489
Medicine (Baltimore). 2016 Oct;95(40):e5081
pubmed: 27749582
Clin Immunol. 2017 Feb;175:99-108
pubmed: 27923702
Immunobiology. 2017 May;222(5):719-725
pubmed: 28139257
Front Immunol. 2017 Apr 19;8:399
pubmed: 28469620
PLoS One. 2017 Aug 2;12(8):e0181134
pubmed: 28767726
Blood. 2017 Sep 28;130(13):1553-1564
pubmed: 28778864
Clin Rev Allergy Immunol. 2018 Apr;54(2):261-268
pubmed: 29030829
J Allergy Clin Immunol. 2018 Apr;141(4):1479-1482.e6
pubmed: 29225085
J Clin Immunol. 2018 Jan;38(1):129-143
pubmed: 29226301
Immunol Lett. 2018 Feb;194:40-43
pubmed: 29278687
J Immunol. 2018 Apr 1;200(7):2362-2371
pubmed: 29459403
J Dermatol. 2019 Jan;46(1):e24-e26
pubmed: 29952021
Am J Hum Genet. 2018 Aug 2;103(2):171-187
pubmed: 30032986
Immunol Rev. 2019 Jan;287(1):202-225
pubmed: 30565241