Case Report: A New Gain-of-Function Mutation of
Demodex
IL-17
STAT1 GOF
demodicosis
inborn error of immunity
mutation
rosacea
rosacea-like demodicosis
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2021
2021
Historique:
received:
17
08
2021
accepted:
15
11
2021
entrez:
6
1
2022
pubmed:
7
1
2022
medline:
17
2
2022
Statut:
epublish
Résumé
Heterozygous missense Genetic analysis NGS identified a novel variant of We describe a new
Identifiants
pubmed: 34987506
doi: 10.3389/fimmu.2021.760019
pmc: PMC8721043
doi:
Substances chimiques
STAT1 Transcription Factor
0
STAT1 protein, human
0
Types de publication
Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
760019Subventions
Organisme : NIAID NIH HHS
ID : R01 AI127564
Pays : United States
Informations de copyright
Copyright © 2021 Martinot, Korganow, Wald, Second, Birckel, Mahé, Souply, Mohseni-Zadeh, Droy, Tarabeux, Okada, Migaud, Puel and Guffroy.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
J Eur Acad Dermatol Venereol. 2018 Jun;32(6):1011-1016
pubmed: 29478301
J Am Acad Dermatol. 2011 Oct;65(4):e131-e132
pubmed: 21920237
J Korean Med Sci. 2011 Sep;26(9):1231-7
pubmed: 21935281
J Exp Med. 2011 Aug 1;208(8):1635-48
pubmed: 21727188
J Eur Acad Dermatol Venereol. 2020 Jun;34(6):e265-e267
pubmed: 31991004
Ann Dermatol Venereol. 2020 Jan;147(1):41-45
pubmed: 31677808
N Engl J Med. 2011 Jul 7;365(1):54-61
pubmed: 21714643
Int J STD AIDS. 2008 Jul;19(7):493-5
pubmed: 18574128
New Microbes New Infect. 2019 Jun 09;31:100525
pubmed: 31388432
Ital J Pediatr. 2015 Mar 28;41:23
pubmed: 25881033
Acta Derm Venereol. 2018 Dec 27;99(1):47-52
pubmed: 30226528
Dermatology. 2002;205(4):394-7
pubmed: 12444338
J Clin Immunol. 2020 Jan;40(1):24-64
pubmed: 31953710
J Am Acad Dermatol. 1992 Dec;27(6 Pt 1):1010-1
pubmed: 1479080
J Clin Immunol. 2021 Apr;41(3):698-700
pubmed: 33404972
J Clin Immunol. 2016 Jan;36(1):73-84
pubmed: 26604104
J Clin Immunol. 2020 Nov;40(8):1065-1081
pubmed: 32852681
J Eur Acad Dermatol Venereol. 2018 Mar;32(3):e88-e89
pubmed: 28846817
Blood. 2016 Jun 23;127(25):3154-64
pubmed: 27114460
PeerJ. 2015 Mar 03;3:e796
pubmed: 25780760
Br J Dermatol. 2001 Jan;144(1):139-42
pubmed: 11167695
Z Hautkr. 1989 Jun 15;64(6):452-4
pubmed: 2527449
Pediatr Dermatol. 2020 Jan;37(1):153-155
pubmed: 31637766
J Eur Acad Dermatol Venereol. 2017 Dec;31(12):e542-e544
pubmed: 28622416
Expert Rev Clin Immunol. 2018 Dec;14(12):1029-1041
pubmed: 30280610
Acta Derm Venereol. 1993 Dec;73(6):437
pubmed: 7906456
Dermatol Clin. 2018 Apr;36(2):115-122
pubmed: 29499794
Hum Genet. 2020 Jun;139(6-7):1011-1022
pubmed: 32124012
J Am Acad Dermatol. 2005 Jan;52(1):74-87
pubmed: 15627084
Arch Dermatol. 2010 Aug;146(8):896-902
pubmed: 20713824
Clin Exp Immunol. 2021 Oct;206(1):56-67
pubmed: 34114647