Associated Papers
A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.
Akarsu A et al.
Scandinavian Journal of Immunology, 2022
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Monticelli M et al.
European Journal of Medical Genetics, 2021
A Novel CD40L Mutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family.
Li L et al.
Immunological Investigations, 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.
Ashton JJ et al.
Clinical and Translational Gastroenterology, 2020
Genetic Analysis of Patients with Two Different Types of Hyper IgM Syndrome.
Alizadeh Z et al.
Immunological Investigations, 2018
Hyper IgM Syndrome: a Report from the USIDNET Registry.
Leven EA et al.
Journal of Clinical Immunology, 2016
A mutation in X-linked inhibitor of apoptosis (G466X) leads to memory inflation of Epstein-Barr virus-specific T cells.
Lopez-Granados E et al.
Clinical and Experimental Immunology, 2014
Are polymorphisms of the immunoregulatory factor CD40LG implicated in acute transfusion reactions?
Aloui C et al.
Scientific Reports, 2014
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Hyper immunoglobulin M syndrome in a 15-year-old boy caused by a Gly219Arg missense mutation.
Katta A et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2013
CanDrA: cancer-specific driver missense mutation annotation with optimized features.
Mao Y et al.
Plos One, 2013
The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from a X-linked hyper IgM syndrome kindred.
Martinez-Martinez L et al.
Molecular Immunology, 2012
Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG.
Rigaud S et al.
Blood, 2011
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Wang HY et al.
Human Mutation, 2010
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
Aghamohammadi A et al.
Journal of Clinical Immunology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A polymorphic CD40 ligand (CD154) molecule mediates CD40-dependent signalling but interferes with the ability of soluble CD40 to functionally block CD154:CD40 interactions.
Barnhart B et al.
Immunology, 2000