Associated Papers
Acquired Renal Amyloidosis in a Patient With X-Linked Hyper-IgM Immunodeficiency With Novel Hemizygotic Pathogenic Variant in CD40LG Gene.
Celis-Giraldo D et al.
Case Reports in Nephrology, 2025
Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome.
Pazhanisamy A et al.
Clinical Immunology (orlando, Fla.), 2023
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
Lymphocytic Interstitial Pneumonitis: An Unusual Presentation of X-Linked Hyper Ig M Syndrome.
Reisi M et al.
Iranian Journal of Pediatrics, 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
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
The structural basis of hyper IgM deficiency - CD40L mutations.
Thusberg J et al.
Protein Engineering, Design & Selection : Peds, 2007
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
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
Nonoyama S et al.
Human Genetics, 1997
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