Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the
CHS
Chédiak-Higashi syndrome
LYST
SNP-array
hemophagocytic lymphohistiocytosis
loss of heterozygosity
primary immunodeficiency
uniparental disomy
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:
03
11
2020
accepted:
16
03
2021
entrez:
19
4
2021
pubmed:
20
4
2021
medline:
15
9
2021
Statut:
epublish
Résumé
Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the
Identifiants
pubmed: 33868243
doi: 10.3389/fimmu.2021.625591
pmc: PMC8044466
doi:
Substances chimiques
LYST protein, human
0
Vesicular Transport Proteins
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
625591Informations de copyright
Copyright © 2021 Boluda-Navarro, Ibáñez, Liquori, Franco-Jarava, Martínez-Gallo, Rodríguez-Vega, Teresa, Carreras, Such, Zúñiga, Colobran and Cervera.
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
Am J Hum Genet. 2019 Nov 7;105(5):921-932
pubmed: 31607426
Trends Mol Med. 2015 Feb;21(2):77-87
pubmed: 25547535
Front Immunol. 2018 Oct 16;9:2397
pubmed: 30386343
Eur J Hum Genet. 2014 Feb;22(2):197-201
pubmed: 23756439
Brain Dev. 2017 Feb;39(2):182-183
pubmed: 27639779
Blood. 2002 Oct 1;100(7):2367-73
pubmed: 12239144
Nat Rev Genet. 2019 Apr;20(4):235-248
pubmed: 30647469
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Clin Cancer Res. 2011 Jun 15;17(12):3913-23
pubmed: 21518781
Mol Cell. 2012 Nov 9;48(3):409-21
pubmed: 23000176
Am J Med Genet. 2002 Feb 15;108(1):16-22
pubmed: 11857544
Biol Cell. 2011 Jul;103(7):303-17
pubmed: 21651501
Am J Med Genet A. 2010 Jun;152A(6):1474-83
pubmed: 20503323
Eur J Hum Genet. 1999 Sep;7(6):633-7
pubmed: 10482950
Bioessays. 2000 May;22(5):452-9
pubmed: 10797485
Hum Mol Genet. 2010 Apr 1;19(7):1263-75
pubmed: 20053666
Cytogenet Genome Res. 2018;154(3):137-146
pubmed: 29656286
Traffic. 2013 Jul;14(7):749-66
pubmed: 23521701
Nat Genet. 1996 Nov;14(3):307-11
pubmed: 8896560
Eur J Haematol. 2014 Jan;92(1):49-58
pubmed: 24112114
Mol Genet Metab. 2005 Jun;85(2):125-32
pubmed: 15896657
Genet Med. 2020 Jul;22(7):1133-1141
pubmed: 32296163
Traffic. 2012 Jan;13(1):108-19
pubmed: 21985295
Leukemia. 1996 Feb;10(2):197-203
pubmed: 8637226
Mol Cytogenet. 2017 Oct 17;10:36
pubmed: 29075327
Proc Natl Acad Sci U S A. 2012 Jun 26;109(26):10456-61
pubmed: 22689986
PLoS One. 2016 Aug 04;11(8):e0160519
pubmed: 27490490
Eur J Med Genet. 2013 Oct;56(10):546-50
pubmed: 23892181
Hum Genet. 2005 Jul;117(2-3):200-6
pubmed: 15887000
Blood. 2011 Oct 27;118(17):4620-9
pubmed: 21878672
Eur J Hum Genet. 1993;1(1):19-29
pubmed: 8069648
Genet Med. 2021 Jan 25;:
pubmed: 33495530
Am J Med Genet. 1980;6(2):137-43
pubmed: 7192492
Am J Med Genet A. 2007 Sep 15;143A(18):2172-7
pubmed: 17702006
Genet Med. 2020 Apr;22(4):803-808
pubmed: 31767986
Blood. 2017 Dec 21;130(25):2728-2738
pubmed: 28935695
Am J Hum Genet. 1998 Apr;62(4):848-54
pubmed: 9529353
J Allergy Clin Immunol. 2012 Nov;130(5):1144-1152.e11
pubmed: 22985903
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067
pubmed: 29165669