Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature

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 Pneumocysti...

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Detalles Bibliográficos
Autores principales: Palterer, Boaz, Salvati, Lorenzo, Capone, Manuela, Mecheri, Valentina, Maggi, Laura, Mazzoni, Alessio, Cosmi, Lorenzo, Volpi, Nila, Tiberi, Lucia, Provenzano, Aldesia, Giglio, Sabrina, Parronchi, Paola, Maggiore, Giandomenico, Gallo, Oreste, Bartoloni, Alessandro, Annunziato, Francesco, Zammarchi, Lorenzo, Liotta, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9096836/
https://www.ncbi.nlm.nih.gov/pubmed/35572607
http://dx.doi.org/10.3389/fimmu.2022.840767

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9096836/
https://www.ncbi.nlm.nih.gov/pubmed/35572607
http://dx.doi.org/10.3389/fimmu.2022.840767

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