CD4
CD4-Positive T-Lymphocytes
/ immunology
CD8-Positive T-Lymphocytes
/ immunology
Cell Proliferation
Cells, Cultured
Child
Cytokines
/ metabolism
Genetic Predisposition to Disease
Heredity
Humans
Immunologic Memory
Lymphocyte Activation
Male
Mulibrey Nanism
/ diagnosis
Mutation
Pedigree
Phenotype
Tripartite Motif Proteins
/ genetics
Ubiquitin-Protein Ligases
/ genetics
CD4+ T cells
Mulibrey syndrome
TRIM37
immune response
immunological defects
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2020
2020
Historique:
received:
18
05
2020
accepted:
30
06
2020
entrez:
12
10
2020
pubmed:
13
10
2020
medline:
13
4
2021
Statut:
epublish
Résumé
Mulibrey (muscle-liver-brain-eye) syndrome (MUL) is an autosomal recessive disorder caused by mutations in the
Identifiants
pubmed: 33042106
doi: 10.3389/fimmu.2020.01742
pmc: PMC7530177
doi:
Substances chimiques
Cytokines
0
Tripartite Motif Proteins
0
TRIM37 protein, human
EC 2.3.2.27
Ubiquitin-Protein Ligases
EC 2.3.2.27
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1742Informations de copyright
Copyright © 2020 Bruzzaniti, Cirillo, Prencipe, Giardino, Lepore, Garziano, Perna, Procaccini, Mascolo, Pagano, Fattorusso, Mozzillo, Bifulco, Matarese, Franzese, Pignata and Galgani.
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