Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome.
MPS II
enzyme replacement therapy
hunter syndrome
immune modulation
neutralizing antibodies
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:
01
02
2020
accepted:
27
04
2020
entrez:
9
6
2020
pubmed:
9
6
2020
medline:
6
5
2021
Statut:
epublish
Résumé
A 3.5 year old Hispanic female presented with signs and symptoms concerning for MPS II (Hunter Syndrome). The diagnosis of MPS II was confirmed by enzyme and molecular testing. Genetic evaluation revealed undetectable plasma iduronate-2-sulfatase enzyme activity and an inversion between intron 7 of the
Identifiants
pubmed: 32508845
doi: 10.3389/fimmu.2020.01000
pmc: PMC7253587
doi:
Substances chimiques
Antibodies, Neutralizing
0
Immunoglobulins, Intravenous
0
Rituximab
4F4X42SYQ6
Iduronate Sulfatase
EC 3.1.6.13
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1000Informations de copyright
Copyright © 2020 Julien, Woolgar, Pollard, Miller, Desai, Lindstrom and Kishnani.
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