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
CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.
Phan ANL et al.
Molecular Genetics & Genomic Medicine, 2021
Hyper IgM Syndrome: a Report from the USIDNET Registry.
Leven EA et al.
Journal of Clinical Immunology, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
CD40-TRAF Signaling Upregulates CX3CL1 and TNF-α in Human Aortic Endothelial Cells but Not in Retinal Endothelial Cells.
Greene JA et al.
Plos One, 2015
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.
Cabral-Marques O et al.
Journal of Clinical Immunology, 2014
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
Human immunodeficiency virus type 1-anchored CD40 ligand induces secretion of the chemokine interleukin-8 by human primary macrophages.
Maurais E et al.
Virology, 2009
Gain-of-glycosylation mutations.
Vogt G et al.
Current Opinion in Genetics & Development, 2007
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G et al.
Nature Genetics, 2005
CD40 ligand mutants responsible for X-linked hyper-IgM syndrome associate with wild type CD40 ligand.
Seyama K et al.
The Journal of Biological Chemistry, 1999
Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.
Seyama K et al.
Blood, 1998
Select a paper to view details