Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.
Compound heterozygous mutations
Missense mutation
Omenn syndrome
RAG1
Journal
Immunogenetics
ISSN: 1432-1211
Titre abrégé: Immunogenetics
Pays: United States
ID NLM: 0420404
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
received:
06
11
2022
accepted:
17
05
2023
medline:
21
7
2023
pubmed:
3
6
2023
entrez:
3
6
2023
Statut:
ppublish
Résumé
The recombination activating gene 1 (RAG1) is essential for V(D)J recombination during T- and B-cell development. In this study, we presented a case study of a 41-day-old female infant who exhibited symptoms of generalized erythroderma, lymphadenopathy, hepatosplenomegaly, and recurrent infections including suppurative meningitis and septicemia. The patient showed a T
Identifiants
pubmed: 37269334
doi: 10.1007/s00251-023-01309-5
pii: 10.1007/s00251-023-01309-5
doi:
Substances chimiques
Homeodomain Proteins
0
RAG-1 protein
128559-51-3
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
385-393Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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