Associated Papers
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.
Palterer B et al.
Frontiers in Immunology, 2022
Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.
Du X et al.
Scandinavian Journal of Immunology, 2019
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again.
Hirbod-Mobarakeh A et al.
Expert Review of Clinical Immunology, 2014
The structural basis of hyper IgM deficiency - CD40L mutations.
Thusberg J et al.
Protein Engineering, Design & Selection : Peds, 2007
Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.
Gilmour KC et al.
Molecular Pathology : Mp, 2003
CD154 variant lacking tumor necrosis factor homologous domain inhibits cell surface expression of wild-type protein.
Su L et al.
The Journal of Biological Chemistry, 2001
CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals.
Garber E et al.
The Journal of Biological Chemistry, 1999
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