Assessing the Functional Relevance of Variants in the
Adult
Animals
Antibodies
/ immunology
Binding Sites
/ genetics
Cell Nucleus
/ metabolism
Centromere
/ metabolism
Cohort Studies
Common Variable Immunodeficiency
/ genetics
DNA
/ metabolism
DNA Mutational Analysis
Female
HEK293 Cells
Heterozygote
Humans
Ikaros Transcription Factor
/ genetics
Inflammatory Bowel Diseases
/ genetics
Male
Mice
Middle Aged
Mutation
NIH 3T3 Cells
Pedigree
Phenotype
Respiratory Tract Infections
/ genetics
Zinc Fingers
CVID
IKAROS
TRAIL DNA binding
monogenic defects
nuclear localization
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:
08
01
2019
accepted:
04
03
2019
entrez:
7
5
2019
pubmed:
7
5
2019
medline:
15
9
2020
Statut:
epublish
Résumé
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency. Patients with CVID are prone to recurrent bacterial infection due to the failure of adequate immunoglobulin production. Monogenetic defects have been identified in ~25% of CVID patients. Recently, mutations in
Identifiants
pubmed: 31057532
doi: 10.3389/fimmu.2019.00568
pmc: PMC6477086
doi:
Substances chimiques
Antibodies
0
IKZF1 protein, human
0
Ikaros Transcription Factor
148971-36-2
DNA
9007-49-2
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
568Commentaires et corrections
Type : ErratumIn
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