Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes.
AIRE gene
autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED)
genotype–phenotype correlation
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
26 01 2021
26 01 2021
Historique:
received:
06
01
2021
revised:
21
01
2021
accepted:
21
01
2021
entrez:
3
2
2021
pubmed:
4
2
2021
medline:
11
2
2021
Statut:
epublish
Résumé
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), caused by mutations in the
Identifiants
pubmed: 33530632
pii: genes12020169
doi: 10.3390/genes12020169
pmc: PMC7912139
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14709-14
pubmed: 20668237
Ann N Y Acad Sci. 2002 Apr;958:276-80
pubmed: 12021123
J Clin Invest. 2016 Oct 3;126(10):3758-3771
pubmed: 27571405
Immunol Rev. 2019 Jan;287(1):103-120
pubmed: 30565240
Hum Mutat. 1999;13(1):69-74
pubmed: 9888391
Curr Opin Immunol. 2016 Dec;43:8-15
pubmed: 27504588
Am J Hum Genet. 1998 Dec;63(6):1675-84
pubmed: 9837820
Eur J Endocrinol. 2020 Nov;183(5):513-520
pubmed: 33107435
Arch Dis Child. 1976 Mar;51(3):170-9
pubmed: 952550
J Clin Endocrinol Metab. 2003 Jul;88(7):3146-8
pubmed: 12843157
Immunobiology. 2019 Nov;224(6):728-733
pubmed: 31526676
Endocrine. 2020 Feb;67(2):457-465
pubmed: 31705387
Int J Mol Sci. 2016 Jul 12;17(7):
pubmed: 27420045
Immunology. 2018 Jan;153(1):10-20
pubmed: 28871661
J Intern Med. 2009 May;265(5):514-29
pubmed: 19382991
Immunogenetics. 2017 Oct;69(10):643-651
pubmed: 28540407
Int J Endocrinol. 2012;2012:353250
pubmed: 23133448
J Clin Immunol. 2015 Jul;35(5):463-78
pubmed: 26141571
J Clin Endocrinol Metab. 2006 Aug;91(8):2843-50
pubmed: 16684821
J Endocrinol Invest. 2013 Nov;36(10):903-12
pubmed: 23723078
Sci Immunol. 2019 Apr 12;4(34):
pubmed: 30979797
J Clin Gastroenterol. 2013 Feb;47(2):112-20
pubmed: 23314667
J Clin Endocrinol Metab. 2012 Feb;97(2):E292-300
pubmed: 22162465
J Clin Endocrinol Metab. 2007 Feb;92(2):595-603
pubmed: 17118990
Endocrine. 2020 Apr;68(1):2-5
pubmed: 32279224