First Case of Patient With Two Homozygous Mutations in
CARD Signaling Adaptor Proteins
/ genetics
Child, Preschool
Consanguinity
Dendritic Cells
/ physiology
Epstein-Barr Virus Infections
/ genetics
Female
Herpesvirus 4, Human
/ physiology
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Immunoglobulin E
/ blood
Macrophages
/ immunology
Mutation
/ genetics
Myeloid Differentiation Factor 88
/ genetics
Pedigree
Primary Immunodeficiency Diseases
/ genetics
Viremia
/ genetics
CARD9
MYD88
NGS
primary immune deficiency (PID)
pyogenic infections
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2019
2019
Historique:
received:
31
10
2018
accepted:
16
01
2019
entrez:
7
3
2019
pubmed:
7
3
2019
medline:
1
1
2020
Statut:
epublish
Résumé
We described for the first time a female patient with the simultaneous presence of two homozygous mutations in
Identifiants
pubmed: 30837984
doi: 10.3389/fimmu.2019.00130
pmc: PMC6383679
doi:
Substances chimiques
CARD Signaling Adaptor Proteins
0
CARD9 protein, human
0
MYD88 protein, human
0
Myeloid Differentiation Factor 88
0
Immunoglobulin E
37341-29-0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
130Références
Science. 2008 Aug 1;321(5889):691-6
pubmed: 18669862
Front Cell Infect Microbiol. 2016 Apr 05;6:39
pubmed: 27092298
J Clin Immunol. 2018 Aug;38(6):656-693
pubmed: 30136218
J Clin Immunol. 2015 Nov;35(8):739-44
pubmed: 26472314
N Engl J Med. 2013 Oct 31;369(18):1704-1714
pubmed: 24131138
Medicine (Baltimore). 2010 Nov;89(6):403-25
pubmed: 21057262
J Leukoc Biol. 2013 Dec;94(6):1185-90
pubmed: 23812328
Am J Respir Crit Care Med. 2015 Sep 1;192(5):618-28
pubmed: 26038974
Allergy Asthma Clin Immunol. 2018 Sep 12;14(Suppl 2):61
pubmed: 30275850
Front Immunol. 2018 Jan 26;8:1965
pubmed: 29434582
J Allergy Clin Immunol. 2008 Dec;122(6):1217-9
pubmed: 18718650
N Engl J Med. 2009 Oct 29;361(18):1727-35
pubmed: 19864672
J Clin Immunol. 2018 Jan;38(1):96-128
pubmed: 29226302
Curr Top Microbiol Immunol. 2015;390(Pt 1):241-65
pubmed: 26424649
Immunol Cell Biol. 2019 Apr;97(4):368-379
pubmed: 30264496
Front Immunol. 2018 Aug 06;9:1836
pubmed: 30127791
Eur J Immunol. 2014 May;44(5):1399-409
pubmed: 24435955
J Allergy Clin Immunol. 2019 Feb;143(2):507-527
pubmed: 30075154
J Immunol. 2009 Jan 15;182(2):851-9
pubmed: 19124728
Nat Immunol. 2014 Dec;15(12):1134-42
pubmed: 25344726
J Allergy Clin Immunol. 2015 Jun;135(6):1558-68.e2
pubmed: 25702837
J Exp Med. 2010 Apr 12;207(4):777-92
pubmed: 20351059
Clin Microbiol Rev. 2011 Jul;24(3):490-7
pubmed: 21734245
JCI Insight. 2016 Oct 20;1(17):e89890
pubmed: 27777981