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Hyper-IgM Syndrome Due to CD40 Deficiency: Report of 10 Patients

✍ Scribed by Al Saud, B.K.; Al-Sum, Z.; Al-Ghonaium, A.; Al-Muhsen, S.; Al-Dhekri, H.; Arnaout, R.; Al-Mousa, H.


Book ID
119284521
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
40 KB
Volume
127
Category
Article
ISSN
1097-6825

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Mutation analysis in CD40 ligand deficie
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Mutations in the gene encoding CD40 ligand have been shown to be the cause of X-linked hypogammaglobulinemia with hyper IgM (HIGM1). We have used the technique of single strand conformational polymorphism (SSCP) analysis to screen for mutations in this gene in affected boys from nineteen unrelated f