Associated Papers
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.
Banday AZ et al.
Journal of Clinical Immunology, 2023
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients.
Al-Saud BK et al.
Journal of Clinical Immunology, 2013
Hyper-immunoglobulin M syndrome type 3 with normal CD40 cell surface expression.
Karaca NE et al.
Scandinavian Journal of Immunology, 2012
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.
Lanzi G et al.
Blood, 2010
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