Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.
DOCK8 deficiency
STAT3 deficiency
WES
candidate gene strategy
differential diagnosis
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2022
2022
Historique:
received:
29
09
2022
accepted:
22
12
2022
entrez:
27
1
2023
pubmed:
28
1
2023
medline:
31
1
2023
Statut:
epublish
Résumé
Hyper IgE syndromes (HIES) is a heterogeneous group of Inborn Errors of Immunity characterized by eczema, recurrent skin and lung infections associated with eosinophilia and elevated IgE levels. Autosomal dominant HIES caused by loss of function mutations in Signal transducer and activator of transcription 3 (
Identifiants
pubmed: 36703986
doi: 10.3389/fimmu.2022.1057679
pmc: PMC9871884
doi:
Substances chimiques
Guanine Nucleotide Exchange Factors
0
DOCK8 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1057679Informations de copyright
Copyright © 2023 Yaakoubi, Mekki, Ben-Mustapha, Ben-Khemis, Bouaziz, Ben Fraj, Ammar, Hamzaoui, Turki, Boussofara, Denguezli, Haddad, Ouederni, Bejaoui, Chan, Lau, Mellouli, Barbouche and Ben-Ali.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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