Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.
CD40LG gene
CD40LG mutation
CPT2 deficiency
CPT2 gene
Leishmania
WES - whole-exome sequencing
hyper-IgM immunodeficiency syndrome
leishmaniasis
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:
21
12
2021
accepted:
03
03
2022
entrez:
16
5
2022
pubmed:
17
5
2022
medline:
20
5
2022
Statut:
epublish
Résumé
X-linked hyper-IgM (XHIGM) syndrome is caused by mutations of the CD40LG gene, encoding the CD40L protein. The clinical presentation is characterized by early-onset infections, with profound hypogammaglobulinemia and often elevated IgM, susceptibility to opportunistic infections, such as
Identifiants
pubmed: 35572607
doi: 10.3389/fimmu.2022.840767
pmc: PMC9096836
doi:
Substances chimiques
Immunoglobulin M
0
CD40 Ligand
147205-72-9
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
840767Informations de copyright
Copyright © 2022 Palterer, Salvati, Capone, Mecheri, Maggi, Mazzoni, Cosmi, Volpi, Tiberi, Provenzano, Giglio, Parronchi, Maggiore, Gallo, Bartoloni, Annunziato, Zammarchi and Liotta.
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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