Associated Papers
The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.
Halacli SO
Immunologic Research, 2022
Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.
Du X et al.
Scandinavian Journal of Immunology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome.
Vargas-Hernández A et al.
Clinical Genetics, 2013
Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.
Danielian S et al.
Journal of Clinical Immunology, 2007
The structural basis of hyper IgM deficiency - CD40L mutations.
Thusberg J et al.
Protein Engineering, Design & Selection : Peds, 2007
Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.
Prasad ML et al.
Journal of Clinical Pathology, 2005
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
Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome.
Bajorath J et al.
Protein Science : a Publication of the Protein Society, 1996
Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction.
Bajorath J et al.
Biochemistry, 1995
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