Characterization of Nine Novel Mutations in the CD40 Ligand Gene in Patients with X-Linked Hyper IgM Syndrome of Various Ancestry

X-linked immunodeficiency with hyper-IgM (HIGMX-1) is a rare disorder caused by defective expression of the CD40 ligand (CD40L) by activated T lymphocytes, resulting in inefficient T-B cell cooperation and failure of B cells to undergo immunoglobulin isotype switch. In the present work, we describe...

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Hlavní autoři: Macchi, Paolo, Villa, Anna, Strina, Dario, Sacco, Maria Grazia, Morali, Federica, Brugnoni, Duilio, Giliani, Silvia, Mantuano, Elide, Fasth, Anders, Andersson, Bengt, Zegers, Ben J. M., Cavagni, Giovanni, Reznick, Igor, Levy, Jacov, Zan-Bar, Israel, Porat, Yael, Airò, Paolo, Plebani, Alessandro, Vezzoni, Paolo, Notarangelo, Luigi D.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801196/
https://ncbi.nlm.nih.gov/pubmed/7717401
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