Associated Papers
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.
Tsai HY et al.
Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2015
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
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
Hyper-IgM syndrome: a case report.
Wang IJ et al.
Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2003
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
Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction.
Bajorath J et al.
Biochemistry, 1995
Select a paper to view details